Autosomal genetic disease

This phase 2 trial tests whether a single dose of LX2006 gene therapy can improve heart muscle thickening and damage in people with Friedreich ataxia, a genetic disorder that often leads to life-threatening cardiomyopathy. Participants aged 6 and older with confirmed heart enlarg…

This study tests a new gene therapy called DB-OTO for children with hearing loss caused by changes in the otoferlin gene. The treatment is injected into the inner ear to help restore hearing. Up to 30 children and infants will take part to check safety and how well it works.

This trial tests whether giving defibrotide before and after a stem cell transplant can prevent a serious liver condition called sinusoidal obstructive syndrome (SOS) in children and young adults with sickle cell disease or beta thalassemia. Participants receive defibrotide start…

This study tests a new, gentler stem cell transplant for children with sickle cell disease using a combination of drugs and low-dose radiation. The goal is to cure the disease with fewer side effects than standard transplants. About 100 children will receive a transplant from a h…

This Phase 3 trial tests an oral drug called nizubaglustat (AZ-3102) in people aged 4 and older with Niemann-Pick type C disease, GM1 gangliosidosis, or GM2 gangliosidosis. The study lasts 18 months and compares the drug to a placebo to see if it is safe and can slow disease prog…

This early study tests baricitinib, a drug already approved for other immune conditions, in 20 people with Job syndrome who also have lupus-like disease or eczema. Participants take the pill daily for 6 months. The main goal is to see if it is safe and tolerable, while also check…

This study tests personalized phage therapy in people with serious infections that have not responded to antibiotics or surgery. Researchers will collect data before, during, and after treatment to see how safe and effective phage therapy is, and how it affects different body sit…

This study looks at people with early-stage gastrointestinal cancers that have a mismatch repair deficiency, a feature that can make tumors respond well to immunotherapy. Part A is a registry that tracks all such patients, whether they have surgery or immunotherapy. Part B follow…

This study tests a new drug called ARO-MAPT-SC in healthy people and those with early Alzheimer's. The goal is to check if it is safe and how the body processes it. Participants receive either the drug or a placebo by injection under the skin. The trial is still in early stages, …

This study tests an oral drug called nizubaglustat in children and teens aged 4 and older with Niemann-Pick type C disease, a rare genetic disorder that affects movement and thinking. Participants will take the drug or a placebo for 18 months to see if it slows the disease and im…

This study looks at the long-term safety and effectiveness of etavopivat, an experimental medicine for sickle cell disease and thalassemia. It involves 480 adults, adolescents, and children who have already benefited from etavopivat in a previous study. Participants will continue…

This study tests a once-daily pill called etavopivat in children (6 months to 18 years) with sickle cell disease. The main goals are to check safety and how the drug works in the body, and to see if it can raise hemoglobin levels and reduce painful crises. About 95 children will …

This phase 3 trial tests whether an experimental oral drug called engasertib can reduce the number of nosebleeds in adults with moderate to severe hereditary hemorrhagic telangiectasia (HHT), a genetic condition that causes abnormal blood vessels and frequent bleeding. About 240 …

Researchers are testing whether measuring phenylalanine at home once a week, rather than once a month, helps adults with classic phenylketonuria keep their levels in a healthier range. The trial enrolls 36 adults aged 18 to 65 who follow a low-protein diet and use special amino a…

This early-stage trial is testing the safety of fostamatinib, a drug already used for arthritis, in 25 adults with stable sickle cell disease. Participants take the pill twice daily for up to 6 weeks, with close monitoring for side effects. The goal is to see if the drug is safe …

This global phase 3 trial is testing whether a daily pill called etavopivat can reduce the number of painful sickle cell crises in adolescents and adults with sickle cell disease. About 408 participants will be randomly assigned to receive either etavopivat or a placebo for aroun…

This early-stage study tests a new drug, DISC-3405, in 24 adults with sickle cell disease to see if it is safe and how the body processes it. Participants will receive increasing doses of the drug, and researchers will monitor side effects and changes in blood counts. The goal is…

This study tests an experimental oral drug, GSK5460025, alone or with other cancer drugs, in adults whose solid tumors have specific genetic changes (dMMR or MSI-H). The goal is to see if the drug can shrink tumors and to check its safety. About 47 people with advanced cancers th…

This study tests an experimental drug called AZD0292 in 435 people aged 12 and older who have bronchiectasis and a long-term lung infection with Pseudomonas aeruginosa. The goal is to see if the drug can reduce the number of moderate-to-severe lung flare-ups compared to a placebo…

This study tests the drug abemaciclib, typically used for cancer, in people with neurofibromatosis type 1 (NF1) who have atypical neurofibromas that cannot be surgically removed. The goal is to find a safe dose and see if it can shrink or stabilize these tumors. Participants take…

This study is testing a milder type of stem cell transplant for people with non-cancerous blood, immune, or metabolic disorders. The goal is to safely get donor cells to grow in the patient's body while reducing harsh side effects. About 220 participants will receive a reduced-in…

This study tests an oral drug called NEO212 in people with specific brain tumors (astrocytoma, glioblastoma) or cancers that have spread to the brain. The goal is to find the safest dose and see if it helps control tumor growth. About 134 adults will take NEO212 alone or with sta…

This study tests a drug called crizanlizumab in people aged 12 and older with sickle cell disease who have frequent pain crises. The goal is to see if the drug can reduce the number of these crises compared to a placebo. Participants may also continue taking their usual treatment…

This phase 2 trial is testing whether a single low dose of tocilizumab, a drug that blocks inflammation, can help people with sickle cell disease who develop acute chest syndrome—a serious lung complication. Researchers will enroll 200 patients aged 12 and older and track their o…

This early-stage trial tests a drug called ALN-APP (mivelsiran) in 60 adults with mild cognitive impairment or mild dementia due to early-onset Alzheimer's disease. The drug is given via a spinal injection to see if it safely lowers certain proteins linked to Alzheimer's in the b…

This early-stage study tests the safety of a new drug called AZD1613 in 40 adults with autosomal dominant polycystic kidney disease (ADPKD), a condition that causes kidney cysts. Participants receive either the drug or a placebo to check for side effects and how the drug moves th…

This study tests a new medicine called etavopivat in 27 children aged 12-16 with sickle cell disease who are at higher risk for stroke. Participants take one daily pill for a year, and doctors use ultrasound to measure blood flow in the brain. The goal is to see if etavopivat can…

This study tests whether early heart screening and treatment for iron overload in people with sickle cell disease can prevent heart problems and reduce hospital stays. About 100 adults with sickle cell disease and high iron levels will receive regular heart imaging and follow-up …

The JAGUAR trial compares two approaches to endovascular aneurysm repair (EVAR) in adults with abdominal aortic aneurysms. Participants are randomly assigned to receive either the Alto Abdominal Stent Graft System or another FDA-approved stent graft. Researchers track complicatio…

This early-stage study is testing a new drug called M0324, a bispecific antibody designed to target cancer cells. The trial will look at M0324 alone, with the immunotherapy pembrolizumab, and with chemotherapy in about 77 people with advanced solid tumors that have not responded …

This study tests a new drug called ITU512 in healthy people and those with sickle cell disease. The goal is to see if it is safe and can increase fetal hemoglobin, which may reduce sickle cell symptoms. The trial is in early phases (1 and 2) and involves about 161 participants. I…

This early-phase trial tests an experimental antibody called DIAG723 in 93 adults with hereditary hemorrhagic telangiectasia (HHT), a condition that causes abnormal blood vessels and frequent nosebleeds. The study will check if the drug is safe and how the body processes it, with…

This study tests a combination of two drugs, trametinib and azacitidine, for children newly diagnosed with juvenile myelomonocytic leukemia (JMML), a rare blood cancer. Lower-risk patients get just these two drugs, while higher-risk patients also receive standard chemotherapy. Th…

This clinical trial tests a partial stem cell transplant for people with severe sickle cell disease or beta-thalassemia who need regular blood transfusions. The transplant uses a lower-intensity conditioning regimen with alemtuzumab, low-dose radiation, and abatacept to help dono…

This extension study follows people with von Hippel-Lindau (VHL) disease or advanced solid tumors who are already taking belzutifan in another trial. The goal is to see how long they live and how safe the drug is over the long term. About 450 participants will take belzutifan by …

This phase 2 study tests belzutifan, a daily pill that blocks a protein called HIF-2α, in people with advanced rare cancers like pheochromocytoma/paraganglioma, pancreatic neuroendocrine tumors, VHL disease-associated tumors, and certain other solid tumors. The goal is to see if …

This early-stage trial tests whether adding special cells (DUOC-01) into the spinal fluid is safe for children with inherited metabolic diseases that damage the brain. Participants are ages 1 week to 21 years and are already receiving a standard umbilical cord blood transplant. T…

This study is testing the long-term safety and effectiveness of an experimental drug called CTI-1601 for people with Friedreich's ataxia, a rare genetic disease that affects movement and heart function. It includes about 85 adolescents and adults who have or have not taken the dr…

This trial tests two experimental drugs, donanemab and RG6289, in people who carry a specific genetic mutation that causes an inherited, early-onset form of Alzheimer's disease. The study first gives donanemab to clear amyloid plaques from the brain, then randomly assigns partici…

This early-phase study tests a new drug called DSB2455 in adults with advanced cancers (breast, ovarian, prostate, pancreatic, or brain metastases) that have a specific DNA repair problem. The main goals are to check safety and see if the drug shrinks tumors. About 180 participan…

This study tests several experimental drugs in people with NF2-related schwannomatosis, a genetic condition that causes non-cancerous tumors on nerves. The goal is to see if these drugs can shrink tumors and control the disease. About 109 participants will receive one of three dr…

This study tests an experimental drug called ATV-1601 in people with moderate to severe HHT, a condition that causes frequent nosebleeds and anemia. The trial has two parts: first, participants receive either the drug or a placebo to check safety and effectiveness; then, all elig…

This study tests an investigational drug called ABBV-CLS-628 in adults with autosomal dominant polycystic kidney disease (ADPKD), a genetic condition that causes fluid-filled cysts to grow in the kidneys. About 240 participants worldwide will receive either the drug or a placebo …

This trial tests whether a Mediterranean diet, enriched with extra virgin olive oil or walnuts, can lower the chance of stroke and slow cognitive decline in people with cerebral amyloid angiopathy (CAA) or CADASIL, two conditions that affect blood vessels in the brain. Participan…

This phase 3 trial is testing whether a weekly injection of nomlabofusp can improve balance and slow the progression of Friedreich's ataxia, a genetic condition that damages the nervous system. The study includes about 150 adults and children with the disease, who will receive ei…

This trial tests whether QRX003, a lotion applied to the skin, can reduce the redness, scaling, and itch caused by Netherton syndrome, a rare genetic condition. Participants apply the lotion twice daily for 3 months and visit the clinic every 4 to 6 weeks for checkups. The study …

This trial tests whether QRX003 lotion, applied to the skin, can safely reduce the severity of Netherton syndrome, a rare genetic condition causing red, scaly skin and intense itching. Researchers will enroll about 20 people aged 14 and older who have the condition. Participants …

This study tests a drug called dorzagliatin in 15 adults with cystic fibrosis who have trouble controlling their blood sugar. Participants take the drug or a placebo for 7 days each, in a crossover design. The goal is to see if dorzagliatin improves glucose tolerance and insulin …

This study tests whether sepiapterin, a powder taken daily, can preserve intelligence and quality of life in children with phenylketonuria (PKU) when started early in childhood. The trial will follow 56 children for years, measuring IQ and other outcomes. It is an open-label phas…

This early-stage trial tests a new drug called BCX17725 in healthy volunteers and people with Netherton syndrome, a rare genetic skin condition. The study aims to check safety, how the drug moves through the body, and whether it can reduce skin redness and scaling. About 78 parti…

This early-stage trial tests a new gene therapy called SKY-GJB2 for children aged 9 months to 7 years with hearing loss caused by changes in the GJB2 gene. The therapy is given as a single injection into the inner ear using a special delivery device. The study will enroll 10 chil…

This study tests whether adding a common water pill (hydrochlorothiazide) to the standard drug tolvaptan can slow kidney function decline and reduce side effects like frequent urination in people with autosomal dominant polycystic kidney disease (ADPKD). About 300 adults on a sta…

This early-stage trial tests whether two cancer drugs, cabozantinib and selumetinib, can safely shrink plexiform neurofibromas in people aged 16 and older with neurofibromatosis type 1 (NF1). About 30 participants will receive the combination daily. The study first finds the safe…

This trial asks whether using a pharmacokinetic test—which tracks how the body absorbs and processes a drug—can help children with sickle cell disease reach the best dose of hydroxyurea faster than the usual bloodwork checks. Patients are split into groups: one gets dose adjustme…

This phase 3 trial is testing whether a personalized, pharmacokinetics-guided dosing strategy for hydroxyurea can improve safety and effectiveness in children with sickle cell anemia in Africa. The study will enroll 400 children aged 6 months to 12 years and compare the rate of s…

This study tests an experimental oral drug called MZE782 in adults with phenylketonuria (PKU), a genetic disorder that prevents the body from breaking down an amino acid called phenylalanine (Phe). High Phe levels can cause brain damage. The trial compares two doses of MZE782 aga…

This study tests a new treatment called OpCT-001 for people with inherited eye diseases that damage the retina, such as retinitis pigmentosa. The treatment involves injecting special photoreceptor cells, made from stem cells, into the back of the eye to replace lost cells. The tr…

This first-in-human trial is testing an experimental drug called VO659 in people with spinocerebellar ataxia type 1, type 3, or Huntington's disease. The drug is designed to target the genetic repeats that cause these conditions, potentially slowing their progression. The study a…

This early-phase trial is testing a gene therapy called SGT-212 for Friedreich's ataxia, a rare genetic disease that damages the nervous system. Ten adults with the condition will receive the therapy through an injection into the brain and a vein. The main goal is to see if it is…

This study tests a drug called SIL-8301 (senicapoc) in 105 adults with sickle cell disease who have low hemoglobin but few pain crises. Participants take the drug or a placebo daily for 24 weeks, along with their usual hydroxyurea. The main goal is to see if the drug raises hemog…

This trial tests whether methylphenidate, a standard ADHD medication, can reduce attention and hyperactivity problems in children and adolescents with KBG syndrome, a rare genetic condition often accompanied by ADHD-like symptoms. Participants receive alternating blocks of the dr…

This trial tests a new model of care called PEN-Plus, which brings specialized treatment for severe chronic diseases like diabetes, heart conditions, and sickle cell disease to first-level hospitals in Zambia. The goal is to train local health workers and set up clinics to manage…

This early-stage trial tests a single injection of AXV-101 gene therapy into one eye of 12 children and teens (ages 4-17) with Bardet-Biedl syndrome type 1, a rare genetic condition that causes progressive vision loss. The main goal is to check safety and find the right dose, whi…

This study looks at two ways to treat lung flare-ups in children with cystic fibrosis. One group starts antibiotics right away, while the other only takes them if symptoms don't improve. Researchers will track lung function over a year to see which approach works better. The goal…

This study tests a gene therapy called DFT383 in 30 children aged 2 to 5 with nephropathic cystinosis, a rare disease that damages kidneys and other organs. The treatment aims to fix the genetic problem so children may no longer need daily cysteamine medication. Researchers will …

This phase 2 trial tests an oral drug called HLX-1502 in people aged 12 and older with neurofibromatosis type 1 (NF1) who have plexiform neurofibromas—nerve tumors that can cause pain, disfigurement, or other problems. The study will enroll 25 participants and measure whether the…

This Phase 3 trial tests whether the oral drug rilzabrutinib can lower the number of painful vaso-occlusive crises in people with sickle cell disease. About 192 participants aged 10 to 65 will receive either the drug or a placebo for 52 weeks. The main goal is to see if the drug …

This trial compares two airway clearance methods—autogenic drainage (a controlled breathing technique) and mechanical percussion (a device that taps the chest)—in children aged 6 to 12 with cystic fibrosis. Over six weeks, participants will receive one of the two therapies five t…

This phase 3 trial tests whether the drug dapagliflozin can slow the loss of kidney function in adults with autosomal dominant polycystic kidney disease (ADPKD), a common genetic cause of kidney failure. The study will enroll 420 people aged 18 to 60 with rapid disease progressio…

This trial is testing whether combining two drugs—selumetinib and APG-115—can help people with neurofibromatosis type 1 (NF1) who have nerve sheath tumors that are either pre-cancerous or already cancerous. The study aims to find a safe dose and see if the combination can shrink …

This early-stage trial is testing a new cancer vaccine called BNT116, alone or with other drugs, in people with advanced non-small cell lung cancer. The main goal is to find a safe dose and check for side effects. About 320 participants will be enrolled across several groups, inc…

This study tests whether a higher, personalized dose of hydroxyurea is safe and works better than a fixed low dose for children with sickle cell anemia who live in regions where malaria is common. The trial includes children who were already taking a fixed dose and compares them …

This study follows 100 adults with hereditary hemorrhagic telangiectasia (HHT) who start taking blood thinners (anticoagulants or antiplatelets). Researchers compare the three months before treatment to the first three months on treatment, tracking bleeding events, iron levels, a…

This study looks at people with cystic fibrosis who need intravenous antibiotics for a sudden worsening of lung symptoms (called a pulmonary exacerbation). It compares treatment with one type of antibiotic (beta-lactam) versus two types (beta-lactam plus an aminoglycoside like to…

This study looks at how highly effective CFTR modulators—medicines like Kalydeco and Trikafta—affect growth and health in infants and young children with cystic fibrosis. Researchers will track changes in weight and height over time in children under 10 years old. The goal is to …

This phase 1/2 trial tests a single inhaled dose of gene therapy called 4D-710 in 30 adults with cystic fibrosis who cannot take standard modulator drugs. The therapy delivers a working copy of the CFTR gene directly to lung cells. The main goal is to check safety and side effect…

This early-stage trial is testing a new gene therapy called nula-cel for people with severe sickle cell disease. The therapy modifies a patient's own blood stem cells to produce normal hemoglobin instead of sickle hemoglobin. About 15 participants aged 12 to 40 will receive the t…

This Phase 3 trial tests whether adding immunotherapy and a targeted drug to short-course radiotherapy and chemotherapy improves outcomes for people with high-risk rectal cancer. About 204 participants will receive either the standard treatment or the intensified combo. The study…

This study tests whether injecting a person's own bone marrow stem cells into or near the eye can help treat various retinal and optic nerve diseases, including age-related macular degeneration, retinitis pigmentosa, and glaucoma. Participants receive stem cell injections via dif…

This study looks at how well setmelanotide works in real-world settings for people with Bardet-Biedl syndrome, a rare genetic condition that causes severe obesity and constant hunger. Researchers will track changes in body mass index, cholesterol, liver fat, and quality of life i…

This early-stage study tests a new medicine called PYC-001, given as an injection into the eye, for people with a rare genetic eye disease (autosomal dominant optic atrophy) caused by a change in the OPA1 gene. The main goal is to check the safety of different doses and schedules…

This study is testing whether stem cells taken from a person's own bone marrow and then given back through the veins and nose can improve brain and nerve function. It includes 500 people with various conditions like stroke, Parkinson's, Alzheimer's, and nerve damage. The goal is …

This study tests whether a single dose of tocilizumab, an anti-inflammatory drug, can help children and adults with sickle cell disease recover faster from acute chest syndrome—a serious lung condition. Participants receive either the drug or a placebo, and researchers measure ho…

This study tests a new gene therapy for children with a severe inherited bone disease called osteopetrosis. The therapy uses the child's own blood stem cells, modified to fix the genetic defect, and then returned to the body. The goal is to improve blood cell production and survi…

This study tests whether the antibiotic rifampin can safely lower high calcium levels in the blood and urine of people with a rare genetic mutation in the CYP24A1 gene. The condition can cause kidney stones and other problems. Sixty participants aged 6 months to 65 years will tak…

This study tests the long-term safety and effectiveness of a daily medication called nizubaglustat in people with two rare genetic diseases that affect the brain and body. About 21 participants who were in a previous study or who have been on a similar drug (miglustat) will take …

This study tests whether omaveloxolone, a drug already approved for people 16 and older with Friedreich's ataxia, can safely help children aged 2 to 15. About 255 participants will first receive either the drug or a placebo for a year, then all will receive the drug for two more …

This study tests a drug called dostarlimab in 25 people with stage II or III colon cancer that has a specific genetic feature (dMMR). The drug is given before any surgery to see if it can shrink the tumor enough that surgery may not be needed. Participants receive the drug every …

This study offers continued access to crizanlizumab, a drug that helps reduce painful crises in sickle cell disease, for 130 patients who benefited from it in earlier Novartis trials. Participants must have completed a prior study and lack other access to the drug. The main goal …

This study tests whether a rotigotine skin patch, a drug used for Parkinson's disease, is safe for people with autosomal dominant polycystic kidney disease (ADPKD). ADPKD causes fluid-filled cysts in the kidneys and can lead to kidney failure. The trial will give 120 adults eithe…

This study tests whether adding the drug ruxolitinib to a standard stem cell transplant can prevent graft failure in children and young adults with severe sickle cell disease. Up to 24 participants will receive the drug during conditioning and be followed for two years after tran…

This study tests a bone marrow transplant from a family donor for children under 21 with severe non-cancer blood disorders like sickle cell disease, bone marrow failure, or immune problems. The goal is to see if the transplant can replace the diseased cells with healthy donor cel…

This study tests two drugs, toripalimab and celecoxib, in people with a specific type of colorectal cancer (dMMR or MSI-H) that has not spread far. The goal is to see if the treatment can make the tumor disappear completely, so some patients might not need surgery. About 105 adul…

This study tests whether empagliflozin, a drug already approved for kidney disease in diabetes, can slow kidney damage in people with sickle cell anemia. About 20 adults with sickle cell disease and early signs of kidney trouble will take the drug for 6 months. Researchers will m…

This study tests whether a non-invasive brain stimulation technique called repetitive transcranial magnetic stimulation (rTMS) can slow cognitive decline in people with early Alzheimer's disease. The treatment targets a key brain region affected by Alzheimer's. Fifty-five partici…

This study tests an experimental mRNA medicine called ARCT-032 in 33 adults with cystic fibrosis who cannot take or do not benefit from current CFTR modulators. The goal is to see if the drug is safe and can improve lung function and quality of life. Participants will receive mul…

This study tests a new device called the CellFX nsPFA catheter, which uses short electrical pulses instead of heat to treat paroxysmal atrial fibrillation (a type of irregular heartbeat). The goal is to see if it is safe and effective at restoring normal rhythm in 215 adults who …

This study tests a stem cell transplant for children with sickle cell disease who have a matched family donor whose blood type is incompatible. The goal is to see if a gentle conditioning regimen using alemtuzumab, low-dose radiation, and sirolimus can safely allow the transplant…

This phase 3 study is testing the long-term safety and effectiveness of AVTX-803, a form of L-fucose, in people with leukocyte adhesion deficiency type II (LAD II), a rare genetic disorder that weakens the immune system. Only 2 participants who completed a previous study are enro…

This Phase 3 study is testing the long-term safety of an oral drug called JNT-517 in 240 children and adults with phenylketonuria (PKU). All participants will receive the drug twice daily, with doses based on age and weight. The goal is to see if JNT-517 is safe to use over time …

This study is testing whether giving blood transfusions that match the patient's own RH genes can prevent the body from making harmful antibodies. About 35 people with sickle cell disease who need regular transfusions will receive specially matched donor blood. The goal is to see…

This study tests a drug called encaleret in 28 children (birth to 17 years) with autosomal dominant hypocalcemia type 1 (ADH1), a rare genetic condition causing low blood calcium. The goal is to see if the drug can safely raise calcium levels and reduce urinary calcium loss. Part…

This study tests a drug called mirdametinib in adults with neurofibromatosis type 1 (NF1) who have skin tumors called cutaneous neurofibromas. The goal is to find a safe dose and see if the drug can shrink these tumors. About 24 people will take the drug daily or on a three-week-…

This study looks at whether offering personalized follow-up, including video visits, helps more people with pseudoxanthoma elasticum (PXE) get proper care. PXE causes calcium buildup in skin, eyes, and blood vessels, leading to vision loss and other problems. The researchers will…

This 10-year observational study is following 450 people with PKU who are taking or starting pegvaliase (Palynziq) to monitor long-term safety, especially allergic reactions. Researchers are tracking serious side effects like anaphylaxis, severe joint pain, and low phenylalanine …

This early-stage trial tests a gene therapy called Urbagen in 12 children aged 2-12 with CTNNB1 neurodevelopmental syndrome, a rare genetic condition causing motor and cognitive delays. The therapy is given as a single infusion into the brain fluid, along with immunosuppressant d…

This study looks at whether a team-based care program can help pregnant women with sickle cell disease (SCD) in a non-academic hospital in Ghana. The goal is to reduce the number of mothers who die during pregnancy or childbirth. About 198 women will take part, and their care wil…

This study tests whether a mobile health app and educational booklets can help adults with sickle cell disease reduce emergency room visits and hospital stays. Researchers will compare the app-plus-booklet approach to booklets alone in 287 participants. The goal is to see if givi…

This trial tests a new gene therapy called DREAM01 for people with severe sickle cell disease who cannot find a matching bone marrow donor. The therapy uses the patient's own blood stem cells, modified to produce healthy hemoglobin and block the sickle cell gene. Up to 15 partici…

This study tests a 16-week nutritionist-led ketogenic diet program (Ren-Nu) with a medical food called KetoCitra in 20 adults with autosomal dominant polycystic kidney disease (ADPKD). The goal is to see if the diet can improve kidney function and other health markers while monit…

This study tests a single, precise dose of radiation to the heart to treat dangerous arrhythmias in 60 patients who haven't improved with medication or standard procedures. Researchers will monitor changes in heart rhythm events and medication use over 18 months. The goal is to s…

This study tests whether giving regular blood transfusions during pregnancy can reduce sickle cell complications and pregnancy-related problems in women with sickle cell disease. About 50 pregnant women will be randomly assigned to receive transfusions or standard care. The goal …

This study tests whether adding urea to the dialysis fluid can prevent dialysis disequilibrium syndrome — a set of neurological symptoms like headache, confusion, and seizures — in people with kidney failure who need urgent dialysis for severe electrolyte problems. Researchers wi…

This Phase 3 trial tests a full-spectrum cannabis extract (YCJ-01) in 84 people aged 2 to 65 with tuberous sclerosis complex (TSC) whose seizures have not been controlled by standard treatments. Participants will receive either the cannabis extract or a placebo for two months. Th…

This early-stage trial tests a drug called NIO752, given via spinal injection, to see if it can reduce production of tau protein in the brain. Tau buildup is linked to Alzheimer's damage. Ten people with mild to moderate Alzheimer's will receive either NIO752 or a placebo, and re…

This long-term follow-up study tracks 50 patients with sickle cell disease who received the experimental gene therapy BEAM-101. The goal is to monitor safety, side effects, and overall health for up to 15 years after treatment. Participants will have regular check-ups to see how …

This study tracks 50 children and adults with non-malignant disorders like immune deficiencies and anemias who receive a stem cell transplant after a reduced-intensity chemotherapy regimen. The goal is to see if this approach improves survival and reduces severe graft-versus-host…

This early-stage trial is testing the safety of a drug called panobinostat in 18 adults with sickle cell disease. The drug aims to boost fetal hemoglobin and reduce inflammation, which may help control the disease. Participants take capsules three times a week for 12 weeks, and r…

This study aims to find effective treatments for people with cystic fibrosis who have rare gene mutations not covered by current drugs. Researchers will test FDA-approved CF drugs on nasal cells in the lab, then confirm the best option in a personalized N-of-1 trial. Up to 50 par…

This study compares two approaches for people aged 65+ with moderate aortic stenosis (a narrowed heart valve): either getting a new valve placed through a thin tube (TAVR) or just having regular check-ups. The goal is to see if early treatment prevents death or heart failure bett…

This study is testing a less intense chemotherapy and radiation regimen before a stem cell transplant for children and young adults up to age 55 with non-cancerous blood disorders like immune deficiencies, anemias, and metabolic diseases. The goal is to see if this gentler prepar…

This study is testing a procedure called EUS-RFA, which uses a thin needle guided by ultrasound to heat and destroy small tumors in the pancreas or adrenal glands. About 138 participants will receive this treatment as part of their standard care and be followed for up to 5 years.…

This Phase 3 trial tests whether fampridine can improve movement and vision in people with spinocerebellar ataxia SCA27B, a rare genetic condition that affects balance and coordination. About 70 adults will take either fampridine or a placebo twice daily for 12 weeks. The main go…

This study tests whether a one-year program of remote exercise sessions and personalized diet advice can increase lean muscle mass in 100 adults with cystic fibrosis who are already taking the drug Trikafta. The program is designed to address new nutritional challenges, like weig…

This trial tests atezolizumab, a drug already approved for several cancers, in people with rare cancers that have high tumor mutational burden (TMB) or microsatellite instability (MSI). The goal is to see if the drug can shrink tumors or stop them from growing for at least 24 wee…

This phase 2 trial is testing whether giving the immunotherapy drug toripalimab, with or without the anti-inflammatory drug celecoxib, before surgery can improve outcomes for people with a specific type of colorectal cancer (dMMR/MSI-H). About 270 participants will receive the dr…

This study is testing whether custom-made or physician-modified stent grafts can safely repair complex aortic aneurysms in people who cannot use standard devices or undergo open surgery. The grafts are tailored to each patient's anatomy, with small holes to keep blood flowing to …

This clinical trial is testing two different surgical methods to repair a bicuspid aortic valve, a common heart defect where the valve has two flaps instead of three. The study will enroll 100 people with this condition who also have a leaky valve (aortic regurgitation). Half wil…

This study is testing the safety of a drug called gallium nitrate in 40 adults with cystic fibrosis who have a difficult-to-treat lung infection called NTM. Participants will receive two 5-day cycles of the drug through an IV. The main goal is to see if the treatment is safe and …

This study tests whether giving a drug called daratumumab before a stem cell transplant can prevent a serious complication called pure red blood cell aplasia in children with sickle cell disease. The transplant uses a gentle, low-intensity approach and a matched sibling donor. Ab…

This study is testing whether giving hydroxyurea twice a day works better than the usual once-daily dose for children with sickle cell disease. About 50 children aged 9 months to 11 years will take the drug for 12 months. Researchers will measure how the drug behaves in the body …

This study tests a personalized way to dose hydroxyurea for children with sickle cell anemia. Instead of using weight alone, doctors will measure how each child's body processes the drug to find the best dose. The goal is to see if this approach reduces damage to the brain, kidne…

This study tests the drug belzutifan in 100 people with von Hippel-Lindau (VHL) syndrome, a genetic condition that causes tumors in various organs. Researchers will track how well the drug shrinks tumors and how long it takes for the disease to progress, while also monitoring sid…

This study compares two procedures for treating persistent atrial fibrillation (AF): catheter ablation (which scars tiny areas in the heart to block faulty signals) and DC cardioversion (an electric shock to restore normal rhythm). Researchers want to see which one better prevent…

This study tests whether an artificial intelligence system called CAD-EYE can detect precancerous polyps during colonoscopy in people with Lynch syndrome, a genetic condition that raises colon cancer risk. The AI is compared to the current best method, dye-spray chromoendoscopy, …

This study is testing a new 3D automated ultrasound system called ATUSA to see how well it can image suspicious breast lesions. Up to 800 women with suspicious findings on standard imaging will get an ATUSA scan before their biopsy. The goal is to collect images and compare them …

This study tests whether a chest-strap ECG wearable, the Frontier X Plus, can accurately detect heart rhythm problems compared to the standard MoMe ARC patch monitor. About 15 active adults who are already prescribed a heart monitor will wear both devices at the same time. Resear…

Researchers at Johns Hopkins University are studying whether neuromuscular ultrasound and MRI can serve as reliable markers of swallowing muscle problems in people with inclusion body myositis (IBM). The study compares imaging and clinical findings in 30 participants, including p…

This early-phase trial is testing whether a single dose of a hormone pill can help diagnose oxytocin deficiency in young people with hypopituitarism. Researchers will give the pill to 20 participants and measure oxytocin-related substances in blood and saliva. The goal is to deve…

This study is testing a cloud-based artificial intelligence platform called Willem that analyzes ECG recordings to detect heart rhythm problems and abnormal patterns. Researchers will compare the AI's readings to those of board-certified cardiologists in over 5,300 high-risk card…

This study compares a new diagnostic test using mannitol infusion to the standard hypertonic saline test for diagnosing the cause of polyuria-polydipsia syndrome (excessive urination and thirst). Researchers will enroll 144 adults to see if the mannitol test is as accurate and mo…

This study looks at whether a menstrual cup can collect enough uterine tissue to screen for endometrial cancer, especially in women with Lynch syndrome who are at higher risk. About 25 participants will use a menstrual cup at home and also have a standard biopsy, then compare the…

This study compares a new wearable armband called HeartWatch to the standard Holter monitor for detecting heart rhythm problems like atrial fibrillation. About 300 adults who need a Holter test will wear both devices at the same time. The goal is to see if the HeartWatch can accu…

This study tests a mobile health information system to help clinics in Uganda screen newborns for sickle cell disease and coordinate their care. Researchers will compare clinics using the new system to those using standard screening. The goal is to see if the system helps more ba…

This study looks at whether a blood test for a protein called hPG80 can help find neuroendocrine tumors (NETs) earlier in people with MEN1, a genetic condition that raises tumor risk. About 297 participants with MEN1 will give blood samples, which will be compared to standard ima…

This study is working on a new blood test for pregnant women that can check for serious genetic conditions like cystic fibrosis, spinal muscular atrophy, and sickle cell disease. Researchers will collect blood samples from 4,000 pregnant women who are at higher risk of passing on…

This study tests a new way to check for bleeding after stroke surgery using a special ultrasound through a clear skull implant. It aims to see if this method is as accurate as a CT scan, which is the current standard but is expensive and time-consuming. About 25 adults who had a …

This study is testing a new blood test that can diagnose single-gene disorders in unborn babies using a sample from the mother. The test looks at fetal DNA found in the mother's blood, which is safer than traditional invasive methods that carry a small risk of miscarriage. Resear…

This study tests a special PET scan that uses a radioactive tracer to find tumors in people with Von Hippel-Lindau (VHL) disease, a genetic condition that causes tumors to grow. About 38 adults with VHL will receive one dose of the tracer and then have a PET/CT scan. The goal is …

This study is testing a blood test (called a liquid biopsy) to see if it can find colorectal cancer, pre-cancerous growths (adenomas), and cancers linked to Lynch syndrome at an early stage. Researchers will enroll 1,200 people who have already had a colonoscopy. The goal is to s…

This study tests a head-worn ultrasound device called SONAS that listens for bubble signals in the brain during a standard heart ultrasound. It aims to see if the device can accurately detect right-to-left shunts—abnormal connections between blood vessels—in adults with hereditar…

This study is testing a new blood test that looks for DNA fragments from tumors in people with hereditary cancer syndromes like Lynch syndrome or BRCA mutations. The goal is to see if the test can find cancers earlier than standard screening methods. Researchers will compare canc…

This study tests whether a smartphone app (AWARE) can accurately detect and monitor lung diseases like asthma, COPD, and cystic fibrosis by analyzing sound waves from the phone's speaker and microphone. Researchers will enroll 800 people aged 8-70, including healthy volunteers an…

This Phase 3 study is testing whether markers in pancreatic fluid and blood can detect early pancreas cancer in people with high genetic risk. Participants receive a secretin injection to collect fluid during an endoscopy. The goal is to improve early detection in those with here…

This study is testing a new type of MRI scan called eASL that measures blood flow in the brain without needing a contrast injection. It will include 50 children with conditions like Moya-moya or sickle cell disease that affect brain arteries. The goal is to see if eASL gives clea…

This study tests whether giving selumetinib early to children with NF1, before nerve tumors cause symptoms, can prevent tumor growth and related problems. About 200 children aged 1 to 8 years with no known tumors will either receive the drug or be observed. The goal is to see if …

This study tests whether a smartphone app, combined with nutrition education, can help people at high risk for cancer eat healthier and reduce their cancer risk. About 170 participants will either get the app or standard advice, and researchers will measure changes in diet qualit…

This early-stage trial tests a personalized vaccine made from a person's own immune cells (dendritic cells) loaded with unique proteins found in Lynch syndrome-related cancers. The goal is to train the immune system to recognize and attack precancerous cells, potentially preventi…

This study looks at whether a liquid medicine called Xromi (hydroxycarbamide) can safely prevent painful complications of sickle cell disease in children aged 9 months to 2 years. About 180 children will take part, with some receiving Xromi and a comparison group of similar child…

This study tests whether hydroxyurea, a drug already used for sickle cell disease, can prevent strokes in 220 high-risk children in Nigeria. Children with sickle cell anemia and abnormal blood flow in the brain will receive low then moderate doses of hydroxyurea. The goal is to s…

This study tests whether giving the drug sirolimus early in life can prevent or delay seizures in infants with tuberous sclerosis complex (TSC). About 64 babies under 7 months old will receive either sirolimus or a placebo. Researchers will track when seizures first appear and mo…

Hereditary hemorrhagic telangiectasia (HHT) causes tangled blood vessels that lead to frequent, hard-to-stop nosebleeds and low hemoglobin. Researchers are testing whether intravenous bevacizumab, given once or twice a year after nasal electrocoagulation, reduces nosebleed severi…

This study will test whether a 4-week daily music therapy app can reduce chronic pain and improve quality of life in 25 youth with sickle cell disease. Participants will either use the app or receive standard educational materials. Researchers will also look at changes in immune …

This pilot study at St. Jude Children's Research Hospital is testing whether a daily dose of extended-release methylphenidate (Ritalin) can safely improve attention, thinking, and school performance in children aged 8 to 17 with sickle cell disease. The trial will enroll 72 parti…

This study tests whether adding lidocaine, a numbing medicine, to standard pain treatment can lower the amount of strong opioids needed during severe sickle cell pain crises. About 104 adults with sickle cell disease who are in the intensive care unit for a pain crisis will take …

This study tests a drug called N-acetyl-L-leucine for people aged 4 and older with CACNA1A gene disorders, which can cause coordination problems, dizziness, and migraines. About 60 participants will receive either the drug or a placebo, then switch, to see if it improves movement…

This study is testing whether a low dose of ketamine, given alongside standard pain medicine, can better control severe pain from sickle cell disease in children and young adults aged 5 to 20. Participants will receive either ketamine or a placebo infusion, and researchers will m…

This study tests if focused or radial shockwave therapy can improve erectile dysfunction and chronic pelvic pain better than a fake (sham) treatment. It includes 186 men, some with a history of prostate cancer. Participants will receive several sessions of shockwave or sham thera…

This study tests a drug called fezolinetant to see if it can reduce hot flashes in men with prostate cancer who are on hormone therapy (androgen deprivation therapy). About 60 men will take either the drug or a placebo daily for 4 weeks. Researchers will track hot flash frequency…

This trial tests whether giving extra arginine intravenously to children with sickle cell disease during a painful vaso-occlusive crisis can lower pain scores, reduce the need for painkillers, and shorten hospital or emergency department visits. The study enrolls children aged 7 …

This trial tests whether sertraline, a widely used antidepressant, can reduce anxiety in children and teens aged 8 to 17 with neurodevelopmental disorders such as autism, ADHD, Fragile X syndrome, and Tourette syndrome. Participants receive either sertraline or a placebo for seve…

This study tests whether a sedative called dexmedetomidine can help people in the ICU who have a life-threatening heart rhythm problem called electrical storm. About 192 adults will receive either the sedative or a placebo for 2-3 days. The goal is to see if it reduces deaths and…

This study tests a smartphone program called NUDGE that acts like a health coach for teens and young adults (ages 13-25) with cystic fibrosis. Participants set activity goals, track progress, and get feedback through the app. The goal is to see if the app helps them stay active a…

This study tests whether L-dopa, a drug used for Parkinson's, can improve movement and communication in children with a rare genetic disorder called CTNNB1 syndrome. The condition causes developmental delays, muscle stiffness, and trouble walking. Seven children aged 1 to 15 will…

This study tests whether the birth control shot Depo-Provera can reduce painful sickle cell episodes in women. Sixty-five women with sickle cell disease who have frequent pain will be monitored for 3 months without the shot, then for 3 months after receiving it. Researchers will …

This study tests whether IGC-AD1, a THC-based oral medication, can safely reduce agitation in people with mild to severe Alzheimer's dementia. About 164 participants will receive either the drug or a placebo twice daily for several weeks. Researchers will measure changes in agita…

This study tests a program called SCThrive, which includes virtual group sessions and a mobile app, to help 260 teens and young adults (ages 13-21) with sickle cell disease take charge of their health. Participants will complete surveys before, after, and 3 months after the 8-wee…

This study is testing whether a type of talk therapy called acceptance and commitment therapy (ACT) can help Black teenagers and young adults with sickle cell disease feel less stressed, anxious, and depressed. About 66 youth and their parents will join group therapy sessions and…

This study is testing whether computerized brain training (BrainHQ) and Tai Chi-Qi Gong can improve memory, thinking, and mood in people with early-onset Alzheimer's disease. Sixty participants aged 40-64 will be assigned to either the training program or an active control group.…

This study tests whether a non-invasive brain stimulation technique called tDCS, combined with cognitive training, can improve thinking skills and mood in people with mild cognitive impairment or early dementia. Fifty participants will receive both real and placebo stimulation in…

This study looks at whether giving less IV fluid to people with sickle cell disease during a painful crisis works just as well as giving more fluid, while possibly causing fewer side effects like fluid overload. About 394 adults with sickle cell disease will be randomly assigned …

This study tests whether nintedanib, a drug already used for lung scarring, can reduce nosebleeds in people with hereditary hemorrhagic telangiectasia (HHT). About 48 adults with moderate to severe nosebleeds will take either nintedanib or a placebo twice daily for 16 weeks. The …

This study tests whether a 6-month adapted physical activity program can improve endurance in children and teenagers with Marfan syndrome. About 30 participants aged 7 to 17 will take part. The program focuses on safe, tailored exercises to help them be more active without puttin…

This study compares two approaches for treating newly diagnosed Alzheimer's disease: the drug donepezil versus a non-drug approach using cognitive stimulation or remediation. Researchers will measure changes in thinking and memory over 6 months in 240 participants aged 50 and old…

This study is testing whether music therapy can help improve quality of life for people with sickle cell disease. About 90 teens and adults will be split into three groups: in-person music therapy, a mix of in-person and virtual music therapy, or health education sessions. The ma…

This study tests whether online group cognitive behavioral therapy (CBT) can reduce depression, anxiety, and other mental health symptoms in adults with cystic fibrosis and their caregivers. Participants will attend 13 sessions via Zoom and be compared to those receiving supporti…

This study tests whether a dental mouthpiece (MAD) works as well as a CPAP machine to improve thinking and memory in people with sleep apnea who also have mild memory problems. About 260 adults aged 45 and older will be randomly assigned to use either device for one year. Researc…

This study tests whether a digital cognitive behavioral therapy (CBT) program, with or without a peer health coach, can reduce pain and opioid use in 470 teens and young adults (ages 16–30) with sickle cell disease and chronic pain. Participants use an app to track pain and mood,…

This study tests a mobile team of pain specialists who visit children and young adults (up to age 25) with moderate to severe intellectual disabilities, autism, or multiple disabilities. The team works with families and caregivers to assess and manage pain in the patient's usual …

This study tests a remote program called Regulating Together (RT) for children aged 8-17 with Tuberous Sclerosis Complex (TSC) who struggle with emotional outbursts. The program uses cognitive behavioral therapy and mindfulness in small group sessions over 5 weeks. Researchers wa…

This study is testing a smartphone app called OnTrackCF, designed to help adults with cystic fibrosis remember to take their CFTR modulator medication and track their symptoms. The app sends up to 3 daily support messages and shows users their adherence levels. Researchers want t…

This study tests a group telehealth program called I-STRONG for teens with sickle cell disease who have chronic pain. The program combines mind-body skills with movement training to help teens cope better and reduce fear of pain. Researchers will enroll 155 teens aged 12-18 to se…

This phase 2 trial tests whether oxytocin nasal spray can improve sexual well-being in people with central diabetes insipidus, a condition that also causes oxytocin deficiency. The study includes 42 participants (patients and healthy controls) and uses a double-blind, placebo-con…

This study tests whether dronabinol, a drug made from cannabis, can reduce chronic pain and inflammation in adults with sickle cell disease. About 60 participants will receive either dronabinol or a placebo to see if it improves pain and quality of life. The goal is to find a new…

This study aims to learn more about non-tuberculous mycobacterial (NTM) infections, which cause repeated lung and other organ infections. Researchers will study up to 1,000 participants to understand the genetics, symptoms, and best treatments for these infections. The study also…

This early-stage study is testing a new drug called VX-581 in 128 healthy volunteers to see if it is safe and how the body processes it. The study is double-blind and placebo-controlled, meaning some participants get the drug and some get a dummy pill. This is a first step toward…

This study is creating a large collection of health information and biological samples (like blood, saliva, and eye tissue) from people with and without retinal diseases. Researchers aim to use this database to better understand conditions like age-related macular degeneration an…

This study looks at how diet and eating habits affect the health of adults with sickle cell disease. Researchers will interview participants about their food intake and behaviors, and collect blood and urine samples. The goal is to understand links between nutrition and symptoms …

Researchers are translating the AdT-Physio scale into French and testing it in 121 adults with cystic fibrosis. The scale asks 15 questions about how often patients do their physiotherapy and what they believe about the treatment and their therapist. Participants also fill out qu…

This study follows up to 3,000 people who have, are at risk for, or are related to someone with a parathyroid disorder. Researchers will collect medical records, questionnaires, and samples like blood and saliva to learn what causes these conditions and how they change over time.…

Researchers at University Hospital Essen are studying donated tissue from people with hereditary hemorrhagic telangiectasia (HHT), a genetic condition that causes abnormal blood vessel tangles called telangiectasias. The study compares tissue with and without these malformations,…

Researchers are building a global registry to collect patient-reported surveys, genetic test results, and medical records from people with Charcot-Marie-Tooth disease and related inherited neuropathies. The study is open to children and adults with a confirmed or suspected diagno…

This study works to improve questionnaires that measure pain, daily activities, and physical function for people with neurofibromatosis type 1 (NF1) who have plexiform neurofibromas. Participants aged 5 and older will give feedback on existing surveys through group discussions or…

This study looks at why people with tuberous sclerosis, a rare genetic condition, develop non-cancerous skin tumors. Researchers will examine up to 400 adults, perform skin exams, and take small tissue samples (biopsies) from tumors. The goal is to identify the cells and genetic …

This study aims to learn more about heart and blood vessel diseases by observing people who have them or are at risk. Researchers will collect samples and perform tests like imaging and stress tests on up to 5,000 participants, including healthy volunteers and relatives of affect…

This study is looking for the genes that cause certain immune system problems. Researchers want to understand why some people get sick and others don't, even in the same family. Up to 5,000 people with immune disorders and their relatives will give blood or cheek cell samples for…

This study is for people with certain autoinflammatory diseases (like NOMID, DIRA, CANDLE, SAVI, and others) and their healthy relatives. Researchers want to learn more about what causes these diseases and how they affect the body over time. Participants will have medical tests a…

This study collects blood stem cells from adults aged 18-40 with DOCK8 deficiency, LAD-1, or GATA2 deficiency. Participants receive daily injections of G-CSF for 5 days to move stem cells into the blood, then undergo a single leukapheresis procedure to collect them. The cells are…

This study aims to learn more about Li-Fraumeni syndrome (LFS), a genetic condition that raises the risk of several cancers. Researchers will study up to 5,000 people with LFS or related cancer histories to find new genes, understand how the TP53 gene works, and identify factors …

Researchers at an Italian hospital are asking women who carry BRCA1/2 gene variants and chose risk-reducing mastectomy to describe their experience in an online survey. The survey covers why they chose surgery, which procedures and reconstructions they had, complications, sensati…

This study looks at the causes and effects of food allergies and related conditions like eczema and eosinophilic esophagitis. Researchers will collect blood, skin, and genetic samples from up to 1,800 people over many years. The goal is to find biomarkers and pathways that explai…

This study is observing 400 people aged 12 and older who have noncirrhotic portal hypertension (NCPH) or are at risk for it. NCPH is a liver condition that increases blood pressure in the liver's blood vessels without causing cirrhosis, and often has no early symptoms. Researcher…

This study collects blood samples from 250 adults with sickle cell disease, sickle cell trait, or healthy red blood cells. Researchers will use these samples to screen thousands of compounds, including FDA-approved drugs, to find ones that stop red blood cells from sickling. The …

This study follows up to 3,500 people with sickle cell disease to learn more about how the condition progresses and what complications arise. Participants receive their usual medical care outside the hospital and visit the clinic for check-ups and research tests. No experimental …

Researchers at Children's Hospital of Philadelphia are studying why people with cystic fibrosis develop diabetes. They will collect blood or saliva samples from 550 children and adults with CF to look at genes linked to type 2 diabetes, including TCF7L2. The team will compare ins…

This natural history study follows up to 4,000 people with inherited bone marrow failure syndromes (IBMFS) and their families to learn why they are prone to certain cancers. Researchers will track health over time, collect genetic samples, and look for clues that separate those w…

This study aims to understand how lymphangioleiomyomatosis (LAM) damages the lungs at the cellular and genetic level. Researchers will follow up to 2,000 participants, including women with LAM and healthy volunteers, using advanced imaging and lab tests. The goal is to find the p…

This study looks at a rare inherited condition called Birt-Hogg-Dube (BHD) syndrome, which raises the risk of kidney cancer. Researchers will collect blood, saliva, and tissue samples from up to 950 participants to find the genes involved and understand how kidney tumors grow. Th…

This study follows up to 10 children under 2 years old with acid sphingomyelinase deficiency (ASMD) who are already receiving olipudase alfa (Xenpozyme®) as part of their routine care. Researchers will monitor side effects and immune responses over 1 to 3 years. No new treatment …

This study follows 155 adults with CADASIL, a genetic condition that narrows small blood vessels and raises the risk of strokes and dementia, over nine years. Researchers will use brain scans, blood tests, and other exams to track how the disease changes blood vessels and thinkin…

This study is creating a European registry for people with idiopathic granulomatous mastitis (IGM), a rare inflammatory breast condition that causes pain, redness, and abscesses. Researchers will collect information from 1,000 participants to better understand symptoms, treatment…

This study collects blood and tissue samples from 2,000 people with or without heart rhythm problems. Researchers will analyze the samples to find genetic differences linked to arrhythmias. The goal is to better understand the causes of these conditions, not to test a new treatme…

This study is a disease registry that will collect information from 200 people in Egypt who have neurofibromatosis type 1 (NF1), a genetic condition that causes tumors to grow on nerves. The goal is to understand how the disease progresses over time, what treatments patients rece…

This study aims to find genetic differences that explain why some people with sickle cell disease develop immune reactions to blood transfusions. Researchers will compare the genes of 50 participants who have had reactions with those who have not. The goal is to identify specific…

This study is checking if a computer model can accurately predict why some people have a prolonged blood clotting time (APTT). The model uses data from routine blood tests to tell if the cause is harmless or a sign of a clotting disorder. Researchers will test it on 1,500 patient…

This study is observing 4,500 people who need pacemakers or similar heart devices. The goal is to create a tool that predicts who is at risk of developing a weakened heart from the device itself. By identifying high-risk patients early, doctors can choose better pacing methods to…

Researchers are testing a microfluidic device called the SCD Biochip to measure how red and white blood cells stick to proteins under normal and low oxygen conditions. They will study blood samples from people with sickle cell disease, including HbSS and HbSC types, and compare t…

This study aims to understand how genetics and environmental factors contribute to melanoma, a serious skin cancer. Researchers will enroll up to 3,000 people with a personal or family history of melanoma or related conditions. Participants will fill out questionnaires, provide b…

This study looks at how genes play a role in lung diseases like cystic fibrosis, asthma, and pulmonary fibrosis. Researchers will examine DNA from up to 3,500 people with and without lung disease to find genetic differences. The goal is to better understand what causes these cond…

This study aims to understand the genetic and biological causes of Proteus syndrome, a rare condition causing abnormal growth of bones, skin, and other tissues. Researchers will follow up to 1,500 participants over time, using medical exams, imaging, and blood tests to track how …

This study follows 80 children aged 2-8 with cystic fibrosis to see how highly effective CF drugs (Kalydeco or Trikafta) impact sinus disease and sense of smell. Researchers will use MRI scans, smell tests, and quality-of-life surveys over two years. The goal is to understand whe…

This study aims to learn more about methylmalonic acidemia (MMA) and related disorders by observing people with these conditions over time. Researchers will track complications, perform tests like blood draws and MRIs, and look for new genetic causes. The goal is to better unders…

This study follows 170 adults with cystic fibrosis and chronic sinusitis to see if sinus surgery improves lung function and quality of life compared to medical treatment alone. Participants either have surgery or continue with standard care. Researchers will track changes in brea…

This study aims to find biological markers that can track the progression of Niemann-Pick type C (NPC), a rare genetic disorder that damages the nervous system. Researchers will evaluate 900 patients of any age through regular checkups, spinal taps, eye exams, and brain scans. Th…

Researchers at the Heart Center Bad Berka run a registry that collects data on adults treated for heart rhythm problems. The registry follows people who receive medication, procedures such as ablation, or implanted cardiac devices. It tracks how safe and effective these treatment…

This early-stage study tests whether the drug motixafortide is safe for people with sickle cell disease and whether it can increase the number of stem cells that can be collected from their blood. These stem cells could be used in future gene therapies or transplants. The study i…

This study is testing a new non-invasive device that uses laser speckle to measure blood flow and structure inside the eye. Researchers will compare these images with standard vision tests in 500 people with various retinal conditions. The goal is to see if this technology can be…

This study collects biological samples like blood, saliva, and urine from 300 adults aged 18-70, both with and without blood disorders such as sickle cell disease and thalassemia. The goal is to use these samples for research to better understand these conditions and related dise…

This study is collecting information from 280 people who need a heart rhythm procedure using BIOTRONIK catheters, external devices, or sheaths. The goal is to track how well the devices work and any problems that may happen during or shortly after the procedure. It is a routine s…

This study creates a database and biobank for people with Li-Fraumeni syndrome or related TP53 gene changes, conditions that raise the lifetime risk of cancer to as high as 90%. Researchers will collect clinical data, blood samples, and tumor tissue from up to 300 participants to…

This study explores whether people with Lynch syndrome can use a self-collected vaginal swab at home to detect early signs of uterine cancer. Researchers will enroll 30 participants who will collect samples and answer surveys. The main goal is to see if this approach is practical…

This study is for people aged 3 and older with neurofibromatosis type 1 (NF1), a genetic condition that often causes noncancerous nerve tumors. About half of people with NF1 get these tumors, and sometimes they turn cancerous. Researchers want to test a new method to predict whic…

Researchers at Ain Shams University in Cairo are creating a registry to track children, adolescents, and young adults with sickle cell disease. The goal is to collect detailed clinical data over time to better understand the disease and improve patient management. This study does…

This study follows 65 people with Friedreich ataxia who also have a thickened heart muscle (cardiomyopathy). Researchers will measure changes in heart structure over time using imaging. The goal is to better understand how heart disease progresses in this condition, which could h…

This study is observing up to 3,500 people with immune system problems, including rare genetic conditions like chronic granulomatous disease and severe combined immunodeficiency. Researchers will track how these diseases change over time through blood tests, imaging, and checkups…

This study follows 3,000 people with Friedreich ataxia, a rare inherited disease that affects movement and coordination, to map how the condition changes over time. Researchers will measure symptoms yearly using standard rating scales for up to 25 years. The goal is to build a de…

This study follows 269 people with neurofibromatosis type 2 (NF2) for up to 10 years to learn how the disease progresses. Participants will have yearly exams, MRI scans, hearing tests, and blood draws. The goal is to understand tumor growth, hearing loss, and speech or swallowing…

This study follows 900 people with bronchiectasis—a condition where airways are damaged and prone to infection—to learn why they get sick repeatedly. Researchers will collect medical history, lung function tests, and blood, urine, and sputum samples from patients and their family…

This study looks at 100 adults with CADASIL, a genetic condition that affects small blood vessels in the brain and can lead to strokes and thinking problems. Researchers will collect genetic data, symptoms, and brain MRI images to see how these factors relate. The goal is to bett…

This study creates a registry of medical records, scans, and surveys from adults with neurofibromatosis type 1 (NF1) who also have a glioma brain tumor. Researchers will track diagnosis, treatments, and quality of life over time to better understand the disease. The goal is to im…

This study is creating the first large database for Niemann-Pick type C (NPC), a rare disease that damages the brain, liver, and spleen. Researchers will collect blood samples and medical records from 100 people with NPC to link their genes with their symptoms. The goal is to und…

This study is creating a registry for children with PTEN Hamartoma Tumor Syndrome (PHTS), a rare genetic condition that increases cancer risk. Researchers will follow 100 participants for 3 years to link genetic changes with health outcomes. The goal is to develop better monitori…

This study aims to learn more about Hyper IgE syndrome, a rare immune disorder that causes skin and lung infections. Researchers will follow 600 patients and their relatives over time, examining their health and genetics. The goal is to better understand the disease and improve c…

This study aims to measure how long red blood cells survive in people with sickle cell disease, thalassemia, and other inherited blood disorders. Researchers will take a blood sample, label the red cells with biotin (a vitamin), and infuse them back into the participant. Over up …

This observational study will follow 50 children aged 5 to 8 with non-progressive congenital ataxia, a rare condition that affects movement and coordination. Researchers will use detailed exams, brain scans, and genetic testing to better understand the disorder and its impact on …

This study collects blood samples and health information from 375 people with non-cancerous blood disorders like aplastic anemia, sickle cell disease, or thalassemia who are receiving a stem cell transplant or gene therapy. The goal is to create a biobank that helps researchers u…

This study aims to create a network of biobanks across Italy that collect and store biological samples and health data from people with rare diseases and their families. The goal is to standardize how samples are collected and shared, so researchers can access high-quality materi…

This study collects information from 200 adults in Russia who have neurofibromatosis type 1 (NF1) with plexiform neurofibromas. Researchers will look at patients' age, symptoms, and medical history to better understand the disease. No new treatments are being tested; the goal is …

This study investigates why some people with early-onset Alzheimer's disease or a variant called posterior cortical atrophy show different patterns of brain damage. Using advanced PET and MRI scans, researchers will map tau protein deposits and brain network activity to identify …

This study looks at whether a standard dose of the antibiotic cefazolin, given before surgery to place a ventricular shunt, reaches high enough levels in the cerebrospinal fluid to prevent infection. Researchers will measure cefazolin in the fluid and blood of 15 adults undergoin…

This study is testing whether a light-based cap (HD-DOT) can measure how well the brain responds to changes in carbon dioxide, a key indicator of stroke risk. Researchers will compare this cap to standard MRI in people with and without sickle cell disease, aged 6 to 70. Participa…

This study is investigating whether germs called non-tuberculous mycobacteria (NTM) found in home water systems and dust can cause lung infections in people with cystic fibrosis. Researchers will collect samples from the homes of 120 CF patients—some with NTM infections and some …

This study looks at whether adults with cystic fibrosis can collect sputum samples at home and mail them in for infection testing, compared to standard clinic collection. With 150 participants, researchers will compare how well home samples detect bacteria like Pseudomonas aerugi…

This registry tracks up to 1,500 people with triple negative breast cancer or inherited genetic mutations (like BRCA). Researchers will study how often these mutations occur, how patients respond to chemotherapy, and long-term survival. The goal is to better understand the diseas…

This study follows 4700 women with high-risk gene mutations (like BRCA1/2) who choose to have a nipple-sparing mastectomy to prevent breast cancer. Researchers want to see if keeping the nipple is safe over many years, compared to traditional mastectomy that removes it. The goal …

This early-stage trial is testing how the experimental drug repinatrabit interacts with several common medications, including birth control pills, metformin, and methotrexate. The study involves 48 healthy volunteers and will measure drug levels in the blood to see if combining t…

This study is testing whether taking estrogen pills (estradiol valerate or ethinylestradiol) can safely trigger the release of oxytocin, a hormone important for social bonding and childbirth. Researchers will measure oxytocin levels in 28 healthy volunteers and patients with AVP …

This study creates a global registry for people with mitochondrial disorders—rare diseases that affect energy production in cells. By collecting health data from 6,000 participants worldwide, researchers aim to understand how these diseases progress and identify the best ways to …

This study looks at how energy production inside cells (mitochondria) works in people with cystinosis, a rare disease that causes cystine buildup and early aging. Researchers will measure cell energy activity in 25 patients and compare it to healthy people. The goal is to underst…

This study follows people with a genetic condition called OPA1-associated optic atrophy, which causes gradual vision loss. Researchers will use a battery of eye exams—including vision charts, contrast sensitivity, and retinal imaging—to see how the disease changes over time. The …

This study follows 750 people with sickle cell disease to see how curative therapies affect the heart, lungs, and kidneys over time. Researchers will compare those who received a stem cell transplant with those on standard treatment. The goal is to understand whether curative the…

This study looks at whether people with a rare inherited movement disorder called spinocerebellar ataxia have trouble recognizing emotions or understanding social situations. Researchers will compare 160 patients to healthy volunteers using tests like recognizing facial expressio…

This long-term study follows 700 adults who carry a rare genetic mutation that causes early-onset Alzheimer's. Researchers collect blood, spinal fluid, brain scans, and cognitive tests to find biomarkers that signal the disease before memory loss begins. The goal is to improve ea…

This study creates a large registry of people diagnosed with hereditary hemorrhagic telangiectasia (HHT), a condition causing abnormal blood vessels and bleeding. Researchers will collect medical records and annual health updates for up to 10 years to understand how the disease c…

This study is a national registry in China that will track 500 women who experience an aortic dissection (a tear in the main artery) during pregnancy or within 12 weeks after giving birth. Researchers will collect information on treatments and outcomes for both mothers and babies…

This study investigates whether people with phenylketonuria (PKU) are more likely to develop eating disorders and obesity due to their restrictive, high-carbohydrate diet. Researchers will examine 70 PKU patients to understand the link between diet, eating behaviors, and weight. …

This study aims to find biological markers (biomarkers) in blood, tears, and eye cells from 110 adults with seven rare eye diseases. Researchers will compare these markers between patients and healthy controls to see if they differ and if they relate to disease symptoms. The goal…

This study tests ways to increase the use of hydroxyurea, a medicine that helps manage sickle cell disease, in Nigeria. Researchers will train healthcare workers and provide tools to help them prescribe and monitor the drug. The goal is to see if these strategies lead to more pat…

This study looks at how common depression, anxiety, and behavior problems are in children with cystic fibrosis (CF) aged 18 months to 11 years. Researchers will use parent and child questionnaires to track these issues over time. The goal is to understand the mental health needs …

This study looks at whether a Mediterranean diet can improve gut health in children with cystic fibrosis. Twenty kids aged 3 and older will follow this diet for 6 months. Researchers will check changes in gut bacteria and inflammation markers. The goal is to offer better diet adv…

This study looks for better ways to find harmful bacteria in the lungs of people with cystic fibrosis. Traditional sputum tests are becoming harder to use because newer CF treatments reduce mucus. Researchers will collect samples like saliva, blood, urine, and breath from 300 par…

This study looks at the bacteria, fungi, and viruses living on the skin, in the gut, and in the mouth of people with Netherton syndrome, a rare condition that damages the skin barrier and often causes allergies. Researchers will compare these microbes to those of healthy voluntee…

This study is building a huge registry of information and biological samples from adults with or at risk for many types of cancer, as well as healthy volunteers. Researchers will use this resource to study what causes cancer and how to better prevent, detect, and treat it. The re…

This study is collecting live tumor samples from 2,000 cancer patients undergoing standard biopsies. Researchers will analyze these samples to understand how tumors respond to immunotherapy drugs outside the body. The goal is to develop a method to predict which patients will res…

This study looks at gum disease in people with rare kidney disorders like Alport syndrome, Fabry disease, and tuberous sclerosis, as well as lupus. Researchers will compare 100 participants to those with chronic kidney disease and healthy controls. They aim to understand how comm…

This study follows children and adults worldwide who have a rare genetic muscle disease called TNNT1 myopathy. Researchers aim to document how the disease progresses over time, including survival and motor milestones. The goal is to identify reliable measures that can be used in …

This study looks at how parents and doctors handle the moment a newborn is diagnosed with phenylketonuria (PKU) through routine screening. Researchers will interview 80 parents and medical staff to understand the emotional impact and find ways to improve how the diagnosis is shar…

This study aims to find out how often Muir-Torre syndrome (MTS) occurs in people who already have Lynch syndrome, a genetic condition that raises cancer risk. Researchers will examine skin lesions and tumors from 150 participants to see if they are linked to MTS. The goal is to b…

This study tracks 253 cystic fibrosis patients starting a new drug combination (elexacaftor/tezacaftor/ivacaftor). Researchers collect sputum, stool, and blood samples at the start, 6 months, and 1 year to see how the drug changes bacteria and inflammation in the lungs and gut. T…

This study looks at how the drug hydroxyurea affects women with sickle cell disease and their babies during pregnancy and breastfeeding. Researchers will review medical records from 200 women to measure drug exposure and compare health outcomes. The goal is to better understand t…

This study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…

This study tests a new, non-invasive MRI technique to detect early brain changes linked to Alzheimer's disease. Researchers will compare brain scans from 50 people with mild memory concerns to healthy volunteers. The goal is to find a simple, affordable way to identify those at r…

This study creates a registry to collect health information from people with Autosomal Dominant Polycystic Kidney Disease (ADPKD), the most common genetic cause of kidney failure. While ADPKD was once thought to only affect adults, researchers now know it begins in childhood, but…

This study is creating a central database and tissue bank for rare diseases affecting the kidneys and liver, such as ARPKD and Joubert syndrome. Researchers will collect medical information, genetic samples, and tissues from 200 participants to help doctors and scientists better …

This study tests a program that helps teens and young adults (ages 15-25) with sickle cell disease work with their doctors to choose the best treatments. About 68 patients, their caregivers, and 8 doctors will take part. The program includes virtual reality or standard education …

This large study will follow 480 children with sickle cell disease to compare two treatment approaches: a stem cell transplant from a matched family donor versus standard disease-modifying therapies. The goal is to see which option leads to better quality of life and thinking ski…

This study looks at how the cystic fibrosis drug ETI affects the way the body handles antibiotics. Researchers want to see if people on ETI need lower antibiotic doses to treat lung infections, which could reduce harmful side effects like hearing loss or kidney damage. The study …

This study tests whether a low-added-sugar, high-fat diet can reduce diabetes risk in adults with cystic fibrosis (CF). Sixty participants will receive either a low-sugar or standard CF diet for 8 weeks. Researchers will measure changes in insulin production, body fat, and blood …

This study is testing whether a specialized blood test (MAIPA) can accurately identify autoimmune thrombocytopenia (ITP) in patients with low platelet counts. Currently, ITP is diagnosed by ruling out other causes, which can be slow and uncertain. Researchers will collect blood s…

This study looks at how new cystic fibrosis drugs work in children ages 2 and older. Researchers want to find genetic clues that can tell us ahead of time who will respond well, so kids don't get unnecessary side effects or high costs from treatments that won't help them. About 1…

This study follows 180 children up to age 16 who have hearing loss caused by mutations in the GJB2 or OTOF genes. Researchers will regularly measure their hearing using standard tests and questionnaires to see how it changes over time. The goal is to better understand the natural…

This study collects blood, nasal, and intestinal cells from 500 people with cystic fibrosis caused by rare mutations. The cells are stored in a bank and shared with researchers to test potential new drugs in the lab. It is a first step toward finding treatments for those who cann…

This study is developing an AI system that tracks tumors and organs during radiation therapy without needing physical markers. Researchers will use existing patient data to train and test the AI. If it works, it could help doctors target radiation more accurately. The study invol…

This registry collects information from people with inherited retinal diseases, like retinitis pigmentosa and Stargardt disease. Participants share their symptoms, family history, and genetic test results online. The goal is to help researchers understand these rare diseases and …

This study tests a structured program to help adolescents with epilepsy transition from pediatric to adult healthcare. Researchers will compare how many patients attend their first adult clinic appointment and whether they return to pediatric care. The goal is to improve self-man…

This 10-year study will follow 500 Korean adults with CADASIL, a genetic brain disease that causes strokes and dementia. Researchers will track symptoms, brain scans, memory tests, and genetic information to understand how the disease progresses in Koreans. The goal is to improve…

This study looks at families in Switzerland who carry genes that raise the risk of breast, ovarian, colorectal, or endometrial cancers. Researchers will survey both the person with the gene mutation and their close relatives to understand how many get tested and what barriers the…

This study is not testing a new drug or treatment. Instead, researchers want to make sure their lab tests and equipment give accurate and repeatable results when studying conditions like obesity, diabetes, heart disease, and bone loss. Up to 100 healthy volunteers and people with…

This study is building a registry of 1,211 people in Brazil who have inherited heart conditions like cardiomyopathy, arrhythmias, and Marfan syndrome. Researchers will collect DNA samples and medical information to discover which genes are most commonly affected and how often the…

This study looks for better ways to monitor kidney transplant recipients for signs of rejection or long-term damage. Researchers will collect blood, urine, and tissue samples from 1000 patients during routine biopsies to find early warning markers. The goal is to replace less sen…

This study looks at how linaclotide, a drug for constipation, affects fluid in the gut. Researchers will use MRI scans to see where the drug works in the small and large intestines. The goal is to learn more about its effects, which could help design future studies for conditions…

This study looks at how genes and body chemistry are linked in adults with phenylketonuria (PKU) who were treated early in life. Researchers will analyze blood and saliva samples from 149 participants to find patterns that may explain differences in health and thinking skills. No…

This study looks at people with retinitis pigmentosa and similar eye diseases who already use a device called OkuStim® that sends mild electrical pulses to the eye. Many patients report temporary improvements in vision right after treatment, but these haven't been measured in a s…

This study is tracking up to 2,000 people with autosomal dominant polycystic kidney disease (ADPKD) who are taking or considering tolvaptan. Researchers will collect real-world data on dosing, side effects, and kidney function over time. The goal is to understand how the drug is …

This observational study is collecting blood and urine samples from 250 people with early-stage polycystic kidney disease (PKD), their unaffected family members, and healthy volunteers. The goal is to create a biobank that researchers can use to find biological markers of disease…

This study follows about 300 people with Friedreich's ataxia who are taking the prescribed drug omaveloxolone (SKYCLARYS®). Researchers will collect safety information from regular doctor visits for up to 5 years. The goal is to see how many participants have serious side effects…

This study tests advanced lung imaging (MRI with xenon gas) and breathing tests to better understand lung function in people with cystic fibrosis. 60 participants will be followed over time. The goal is to see if these new methods can detect changes more precisely than standard t…

This study is creating a large biobank of blood, DNA, plasma, and tissue samples from 15,000 people with and without heart and aortic diseases. Researchers will use this information to better understand conditions like aortic aneurysm, heart failure, and bicuspid aortic valve. Th…

This study looks at how certain natural chemicals in the body affect blood vessel health in people with pseudoxanthoma elasticum (PXE), a rare genetic disease that causes calcium buildup in tissues. Researchers will measure levels of these chemicals in 45 adults with PXE to bette…

This study looks at 300 people with Lynch syndrome, a genetic condition that raises the risk of colorectal cancer. Researchers want to understand why some patients still develop cancer even with regular check-ups. They will analyze blood, gut bacteria, and hair samples to find cl…

This study looks at how cystic fibrosis patients who take the drug combination Elexacaftor-Tezacaftor-Ivacaftor (ETI) breathe during exercise. Researchers will measure lung function while patients walk or step, aiming to find out how many have limited breathing capacity. The resu…

This study aims to find genetic mutations in the brain that cause drug-resistant epilepsy in children. Researchers will compare DNA from blood and brain tissue, including samples from special electrodes placed in the brain. The goal is to better understand the root causes of thes…

This study aims to find the genes and DNA changes that cause cherubism, a rare condition that affects the jaw bones. Researchers will study blood and tissue samples from up to 600 people, including patients and their family members. The long-term goal is to understand the disease…

This study is building a special collection of blood and urine samples from 800 adults with sickle cell disease or sickle cell trait, along with some healthy volunteers. Researchers will use these samples and medical records to learn how kidney disease starts and gets worse in pe…

This study watches 150 adults with heart valve problems who are getting a procedure (TAVI or M-TEER) to see if it helps their sleep-disordered breathing. Participants take a sleep test before the procedure and again 6 months later. The goal is to learn how fixing heart valves mig…

This study is creating a registry for people with Shwachman-Diamond Syndrome (SDS) or similar conditions. Researchers will collect medical records and biological samples from up to 5,000 participants to understand how the disease progresses and what treatments work best. The goal…

This study uses high-resolution ultrasound to look at nerves in people with Friedreich ataxia, a rare inherited disease that damages the nervous system and heart. Researchers want to see if nerve size and blood flow are different in these patients. The goal is to find new ways to…

This study looks at how adults with intellectual developmental disorder (IDD) understand emotions, compared to people without IDD. Researchers will test 60 adults using tasks that involve recognizing facial expressions, emotions in context, and vocal tones. The goal is to find sp…

The PROFA study is an international observational study that follows 200 people with Friedreich Ataxia (FA) across Germany, Austria, and France. Participants use a mobile app to report their quality of life, symptoms, and healthcare costs daily for six months. The goal is to unde…

This study looks at when to start a parent coaching program called JASPER Babble for infants who have an older sibling with autism, putting them at higher risk. About 140 babies will join at 6-8 months old and be randomly assigned to start coaching at 9, 12, or 15 months. Researc…

This study looks at how high-frequency 5G waves (27.5 GHz) affect the skin. Researchers will expose healthy volunteers and people with certain skin conditions to these waves and analyze skin cell changes using advanced techniques. The goal is to understand any biological effects,…

This study looks at DNA methylation patterns (chemical tags on DNA) in fetuses with rare genetic diseases. Researchers will analyze DNA from amniotic fluid and tissue samples to create reference signatures. The goal is to improve diagnosis of these conditions before birth. The st…

This study is collecting information and samples from 1,500 people with TP53 gene changes (linked to Li-Fraumeni Syndrome, a condition that raises cancer risk) and their relatives. Researchers want to better understand how these gene variants affect cancer risk and how accurate f…

This study watches 200 people with cystic fibrosis to learn how their bodies react to standard treatments for severe lung infections. Researchers track symptoms, lung function, and collect samples to understand why some people recover better than others. The goal is to use this k…

This study is working to create better exercise tests for children with cystic fibrosis, sickle cell disease, or long COVID. Current tests are designed for healthy athletes and may not be safe or useful for these kids. Researchers will track 240 children over 3-4 years, measuring…

This study follows 50 pregnant women with phenylketonuria (PKU) who have taken the drug Palynziq (pegvaliase) around the time of pregnancy or while breastfeeding. Researchers will track pregnancy outcomes and infant health, including birth defects and development. The goal is to …

This study aims to improve diagnosis for people with rare genetic diseases whose standard genetic tests came back negative. Researchers will take a small skin sample and analyze RNA to find hidden genetic changes. The study involves 105 participants, including healthy volunteers …

This observational study aims to understand how the CFTR gene is regulated in epididymal cells, which may help explain male infertility linked to cystic fibrosis. Researchers will collect leftover tissue samples from 20 men already scheduled for surgery. No extra procedures are n…

This study aims to create a collection of blood and urine samples from 300 people with Marfan syndrome or related conditions. Researchers will use these samples to study how the disease works and find clues that might predict how it will progress. Participants provide extra sampl…

This study follows 300 people with cystic fibrosis for one year to learn what triggers sudden worsening of symptoms, called exacerbations. Participants provide regular health data and samples, and some will also have extra clinic visits and home monitoring. The goal is to find ea…

This study is gathering information from 15 people with CACP syndrome, a rare genetic condition that causes joint problems and sometimes heart issues. Researchers want to better understand how the disease develops and changes over time. The goal is to improve diagnosis and care f…

This study reviews past medical records of 400 people with Lynch syndrome who had a small bowel capsule endoscopy (a pill-sized camera) to screen for pre-cancerous growths or cancer in the small intestine. The goal is to see how well this camera test finds these lesions compared …

This study follows 400 pregnant women with rare blood vessel diseases (like HHT, Marfan syndrome, or lymphedema) to learn about serious pregnancy complications. Researchers will ask participants about their health during pregnancy and for 12 months after birth. The goal is to gat…

This study tests two daily doses of zinc (25 mg and 40 mg) in 34 adults with sickle cell disease to see which dose works best for bone health. Participants take zinc for 12 weeks, and researchers measure changes in bone formation and breakdown markers. The goal is to pick the rig…

This study looks for new genetic causes of congenital sideroblastic anemias, a group of rare blood disorders where the body cannot properly use iron to make red blood cells. Researchers will analyze DNA from 20 people whose genetic cause is still unknown. The goal is to find and …

This study looks at how quickly the kidneys clear morphine in sickle cell patients having a painful crisis. Researchers will measure kidney function and morphine levels in 100 intensive care patients to see if higher doses are needed for effective pain relief. The goal is to pers…

This study looks at how nerves work in people with Charcot-Marie-Tooth disease and other nerve disorders like CIDP. Researchers will use special electrical tests and ultrasound to measure nerve and muscle changes. The goal is to better understand these conditions, not to test a n…

This study aims to identify genetic factors that affect how severe muscle and heart problems become in people with LMNA gene mutations. Researchers will collect skin and muscle samples from 40 participants and use advanced DNA and RNA analysis to look for protective or aggravatin…

This study aims to find the genetic causes of bicuspid aortic valve (BAV), a common heart defect where the valve has two flaps instead of three. Researchers will collect blood samples from 700 people with BAV and their family members to compare DNA. The goal is to identify gene c…

This study follows 1,000 women newly diagnosed with epithelial ovarian cancer to see how their genetic makeup (BRCA and HRD status) influences their response to standard treatments. Researchers will track surgery outcomes, treatment response, and survival. The goal is to gather r…

This study looks at whether people with CAPS (a rare genetic inflammatory condition) have disrupted circadian rhythms—the body's natural day-night cycle. Researchers will measure melatonin levels and track activity with a watch in 30 participants (patients and healthy household m…

This study watches 500 people with cystic fibrosis who are already taking CFTR modulator medicines. Researchers measure sweat chloride, nasal electrical activity, and rectal tissue responses to see how well the drugs improve CFTR protein function. The goal is to better understand…

This study is gathering detailed information from 470 adults with chronic inflammatory lung diseases like asthma, COPD, and cystic fibrosis, as well as healthy volunteers. Researchers will analyze clinical, biological, and lifestyle factors to identify distinct disease subtypes. …

This study looks at how the cystic fibrosis drug combination ETI (elexacaftor-tezacaftor-ivacaftor) behaves in children aged 2 to 17. Researchers will measure drug levels in the blood and see how they relate to the drug's benefits and side effects, such as liver problems or mood …

This study will follow 1,000 adults in Spain who are suspected of having obstructive sleep apnea (OSA) and daytime sleepiness. Participants will undergo standard sleep tests, blood pressure monitoring, and fill out questionnaires about their quality of life and sleepiness. Resear…

This study tests whether music enhanced with sonic augmentation technology can increase oxytocin (a hormone linked to social bonding) with few side effects. Researchers will compare the modified music to regular music in 22 healthy adults and patients with AVP-deficiency. The goa…

This study aims to understand the full burden of 9 rare skin diseases—including physical, emotional, social, and financial challenges—on patients and their families. Researchers will use special questionnaires to track how these conditions affect daily life and care needs. About …

This study follows 50 children with PTEN gene mutations to better understand their risk of developing tumors. Participants will have yearly check-ups including blood tests, ultrasounds, and skin exams for 5 years. The goal is to create better monitoring guidelines for these child…

This study is investigating why some people with migraine with aura also have a small hole in the heart called a PFO. Researchers will compare genetic differences and blood flow patterns between 240 adults who have migraine with aura, some with a PFO and some without. No new trea…

This study follows 60 people with Usher syndrome type 1B, a rare genetic condition causing deafness and progressive vision loss. Researchers will measure how vision changes over time using standard eye tests and new virtual reality tools. No treatment is given; the goal is to bet…

This study looks at how often people with cystic fibrosis and diabetes develop complications like eye, kidney, and nerve problems. Researchers will also check blood pressure and cholesterol. The goal is to better understand these risks in a diverse group of 200 adolescents and ad…

The SAFE study is a long-term research project following 250 adolescents and young adults with sickle cell anemia. It aims to understand how the medicine hydroxyurea affects growth, puberty, and the ability to have children. Researchers will also compare pregnancy outcomes betwee…

This study looks at psychiatric symptoms in people with White-Sutton syndrome, a rare genetic condition. Researchers will interview 30 children and adults and use standard questionnaires to identify anxiety, OCD, autism, and other issues. The goal is to better understand these sy…

This study looks at whether certain medications known to affect the heart's electrical activity (QT-prolonging drugs) actually cause major heart problems in hospitalized adults. Researchers will analyze data from over 990,000 patients across Ontario hospitals, comparing those who…

This study is following 500 people with cerebral small vessel disease (CSVD) to see how their genes affect their brain scans, symptoms, and health over time. Participants get genetic testing and MRI scans at the start and again after 1-2 years. The goal is to better understand th…

This study looks at whether children with sickle cell disease (SCD) develop enough antibodies after getting the measles vaccine. Researchers will enroll 130 children aged 6 months to 6 years who are due for their measles shots. Blood samples will be taken a few weeks after each d…

This study follows 30 people with Zellweger Spectrum Disorder over 5 years to understand how their vision changes over time. Participants will have yearly vision tests, physical exams, and blood work. The goal is to define the course of retinal degeneration and find the best ways…

This study is surveying 100 adults with cystic fibrosis to find out how many smoke or vape. Many people assume that patients with cystic fibrosis don't smoke, but there is almost no data on this. The results will help doctors improve tobacco prevention and understand how smoking …

This study is testing whether a new, low-cost type of brain scan can find early signs of Alzheimer's and Parkinson's disease. Researchers will compare brain scans from 120 people, including those at risk for Alzheimer's, those with Parkinson's, and healthy volunteers. The goal is…

This study looks at people with a mechanical heart valve who hear a clicking noise from it. Researchers want to know if remembering information given before surgery about this noise affects their quality of life afterward. About 180 participants will answer questionnaires over th…

This observational registry is recruiting 500 people with polycystic liver disease (PLD) across the UK. Researchers will collect data from medical records and questionnaires to map how the disease progresses, including symptoms, liver cyst changes, and quality of life. The goal i…

This study aims to learn more about rare genetic diseases that affect both the immune system and the nervous system. Researchers will collect medical information and samples from 1,000 participants, including patients, their relatives, and healthy volunteers. The goal is to bette…

This study is building a global database of 1000 people with homozygous familial hypercholesterolemia (HoFH), a rare inherited condition causing extremely high cholesterol from birth. Researchers are gathering de-identified medical data from clinics around the world to better und…

This study is testing whether wearable sensors that track things like heart rate and breathing can detect changes during a chest infection in adults with cystic fibrosis or bronchiectasis. Researchers will monitor 50 patients who are starting intravenous antibiotics for a lung in…

This study follows 29 children with sickle cell disease who receive MEOPA gas for pain during a crisis. Researchers will check their vitamin B12 levels before and after treatment, and again at 7 days and 1 month. The goal is to see how often MEOPA causes a B12 deficiency and whet…

This study looks at whether a special eye scan can detect early blood flow changes in the retina of people with pseudoxanthoma elasticum (PXE), a rare genetic disease that can cause vision loss. Researchers will compare 30 PXE patients with 30 healthy volunteers matched by age an…

This study aims to find out how common high blood pressure is in children and teenagers (ages 12-17) who are at risk for autosomal dominant polycystic kidney disease (ADPKD) because a parent has it. Researchers will use MRI scans and genetic tests to detect early signs of the dis…

This study aims to create a large collection of blood samples from 2,500 people with or at high risk for cancer. Researchers will use these samples to study liquid biopsies, which are blood tests that may help detect cancer, track treatment response, and spot recurrence. Particip…

This study enrolls 500 adults with nasopharyngeal carcinoma (stage I-III) who are receiving chemoradiotherapy with either proton or photon radiation. Researchers will collect imaging scans and blood samples to find markers that predict how well the cancer responds, side effects, …

This study looks at how spinocerebellar ataxia (SCA) affects the eyes and vision. Researchers will examine 60 adults with SCA types 1, 2, 3, or 27B, including those with early symptoms and those who are not yet symptomatic. The goal is to measure vision changes and eye damage usi…

This study aims to develop better MRI-based tools to measure kidney disease progression in people with Autosomal Recessive Polycystic Kidney Disease (ARPKD), a serious genetic condition with no approved treatments. Researchers will enroll 45 ARPKD patients and 15 healthy voluntee…

This study is creating a registry for people with Li-Fraumeni syndrome, a rare genetic condition that raises the risk of several cancers. Researchers will collect medical, genetic, and quality-of-life data from 200 participants in Italy. The goal is to better understand the disea…

This study looks at how much physical activity and sitting time adults with cystic fibrosis have, especially those on the latest triple-combination drug. Researchers will ask 270 participants about their activity and use activity monitors on a smaller group. The goal is to unders…

This 24-month observational study will follow up to 1000 people with certain types of muscular dystrophy (LGMD, DM2, and late-onset Pompe disease) aged 6-50. Researchers want to see if specific physical tests, like the North Star Assessment and a 100-meter walk, are good ways to …

This study looks at how estrogen and other hormones affect bone development in teenage and young adult women with cystic fibrosis (CF). It has two parts: an observational study that tracks bone health in women using different types of birth control, and a small feasibility study …

This study follows 146 people with cystic fibrosis who recently became first-time parents. Researchers will track their lung function, mental health, and stress levels over five years using surveys and medical records. The goal is to understand how parenthood affects their health…

This study collects medical information and biological samples (like blood or tissue) from up to 12,000 people with leukodystrophies—rare disorders that damage the brain's white matter. Researchers will use this data to find new genetic causes, develop biomarkers for future trial…

This study will follow 600 people with a specific type of advanced colorectal cancer (MSI-high) who are being treated with the immunotherapy drug pembrolizumab. The goal is to understand why about 20-30% of patients do not respond to this treatment. By analyzing tumor samples and…

This observational study follows up to 5,000 people with Charcot Marie Tooth disease (CMT) types 1B, 2A, 4A, and 4C over five years. Researchers will measure symptoms, nerve function, and disability using special scales to understand how the disease changes over time. The goal is…

This study looks at how iron supplements, often given for anemia, affect the immune system in people with Hereditary Haemorrhagic Telangiectasia (HHT), a rare genetic disorder that causes frequent nosebleeds and abnormal blood vessels. About 155 adults with HHT will be divided in…

This study is for people with sickle cell disease or other rare anemias. Researchers want to use advanced genetic and blood tests to better understand each person's condition. The goal is to make diagnosis more precise so that treatments can be tailored to each patient. About 200…

This study follows 60 women with cystic fibrosis (CF) who are planning a pregnancy, pregnant, or new parents, along with their babies. Researchers will track lung function, nutrition, mental health, and pregnancy outcomes, as well as infant health issues like liver function and l…

The Dragonfly study is an international observational project tracking the development of 250 children and adults with CTNNB1 neurodevelopmental syndrome. Researchers will collect medical history, perform neurological exams, and use questionnaires to understand how symptoms and a…

This study is testing two genetic tests (Giscar and myChoice) to see if they can identify ovarian cancer patients whose tumors have a specific DNA repair problem (HRD). The goal is to see if these tests can predict which patients will respond well to platinum chemotherapy and may…

This study aims to better understand how the spleen filters and responds to abnormal blood cells in various diseases. Researchers will collect spleen tissue and blood from 100 adults undergoing planned splenectomy. By perfusing the spleen in the lab, they hope to uncover its role…

This phase 2 trial is testing whether the diabetes drug empagliflozin changes how the kidneys handle calcium, phosphate, and magnesium in people with autosomal dominant polycystic kidney disease (ADPKD). Forty adults will take either empagliflozin or a placebo for two weeks, then…

This study aims to learn how blood flow and oxygen use in the brain change as children grow, especially in those with sickle cell disease who are at risk for stroke. Researchers will use MRI scans and have participants breathe in small amounts of carbon dioxide to see how well th…

This study looks at fetal cells that remain in a mother's blood after pregnancy, called fetal microchimeric cells, in women with chronic skin ulcers like venous or diabetic ulcers. Researchers will analyze these cells' genetic activity to see if they might help with wound healing…

This study is looking at 50 adults with a rare genetic nerve disorder called RFC1-ataxia or CANVAS, which causes problems with balance, coordination, and sensation. Researchers will take blood samples and skin biopsies over 12 months to measure markers of cell stress and damage. …

This study looks at the genetic causes of nephronophthisis, a rare kidney disease that leads to kidney failure before age 20. Researchers will collect urine and blood samples from 310 patients and healthy relatives to study cells and identify potential drug targets. The goal is t…