Autosomal genetic disease

This early-stage trial tests a single intravenous infusion of NGGT002, a gene therapy designed to deliver a working copy of the PAH gene to adults with classic phenylketonuria (PKU). The goal is to see if this approach can safely lower phenylalanine levels in the blood, which cou…

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 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, 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 early-stage trial tests a gene-editing treatment for people with severe sickle cell disease or beta-thalassemia. The approach uses the patient's own blood stem cells, which are edited to boost fetal hemoglobin—a healthy type that can replace the defective hemoglobin. Up to 1…

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 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 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 early-phase trial is testing a new drug, FOG-001, in about 595 people with advanced or metastatic solid tumors, including colorectal, prostate, and liver cancers. The drug is given alone or with other cancer treatments to see if it is safe and shrinks tumors. The study is cu…

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 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 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 study tests the drug acalabrutinib in people with chronic lymphocytic leukemia (CLL) who also have moderate to severe heart failure. Researchers want to see if acalabrutinib causes fewer heart-related side effects compared to other standard treatments. About 60 adults will t…

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 study tests a stem cell transplant using cells from mismatched unrelated or partially matched family donors for people with severe sickle cell disease and other transfusion-dependent anemias. The approach removes certain immune cells (T-cells) from the donated stem cells to …

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 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 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 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 study tests a new medicine called ANG003 for people with cystic fibrosis who have trouble digesting food (exocrine pancreatic insufficiency). The medicine is a type of enzyme replacement therapy, similar to the current standard treatment Creon. About 113 participants will re…

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 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 early-stage trial tests an oral drug called SVG103 (Paxalisib) in 15 adults with rare brain conditions (FCD-II, TSC, or HME) that cause seizures. The main goal is to check safety and side effects, while also seeing if it reduces seizure frequency. Participants take the drug …

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 trial is investigating whether combining an immunotherapy drug (a PD-1 inhibitor like sintilimab or pembrolizumab) with progesterone therapy can help young women with early-stage, mismatch repair-deficient (MMRd) endometrial cancer achieve complete remission while preserving…

This phase 3 trial tests whether taking the drug olaparib for one year works as well as taking it for two years to keep ovarian cancer from coming back. The study includes 880 people with advanced ovarian cancer (stage III or IV) who have a BRCA mutation or similar DNA repair pro…

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 trial tests the safety of tolvaptan, a drug that helps the body remove extra water, in 20 children aged 28 days to 18 years with autosomal recessive polycystic kidney disease (ARPKD). The goal is to see if the drug can slow kidney function decline and reduce the need for dia…

This Phase 3 study tests whether the drug mavorixafor can reduce serious infections and increase neutrophil levels in people with chronic neutropenia—a condition where the body doesn't make enough infection-fighting white blood cells. About 176 participants will receive either ma…

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 study tests a new drug called anumigilimab in 63 adults with sickle cell disease to see if it is safe. Participants get weekly injections for 64 weeks, starting with a low dose that increases to their personal maximum. The goal is to reduce painful crises, but people will st…

This early-stage trial is testing whether a skin gel made from curcumin (a compound in turmeric) can be safely absorbed by adults with stable sickle cell disease. Researchers will apply the gel to the forearms twice a week for six weeks and monitor for side effects. The goal is t…

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 Phase 3 trial tests whether the drug mitapivat can reduce the need for blood transfusions in people with sickle cell disease. About 159 participants aged 12 and older will receive either mitapivat or a placebo daily for a year. The main goal is to see if more people can avoi…

This early-stage study tests a new drug called NEO-811 in people with advanced clear cell kidney cancer that has spread or cannot be surgically removed. The goal is to find the safest dose and see how well the drug works. About 30 participants who have already tried other treatme…

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 investigates whether changes in retinal blood vessels can serve as a marker for cerebral small vessel disease (SVD), a common condition in older adults that increases stroke and dementia risk. The trial includes people with SVD-related conditions like CADASIL, sporadic…

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 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 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 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 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 early-phase trial tests a new treatment for colorectal cancer that has spread to the lining of the abdomen. It combines specially engineered natural killer (NK) cells, given both into a vein and directly into the belly, with the drug cetuximab. The goal is to find the safest…

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 phase 2 trial is investigating whether a combination of three drugs—irinotecan, cetuximab, and envafolimab—can control tumor growth when given again to people with metastatic colorectal cancer who had previously responded to similar treatments. The study enrolls adults whose…

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 study tests a stem cell transplant from a half-matched family donor for children and young adults with sickle cell disease. The goal is to control the disease while reducing serious side effects like graft-versus-host disease. Up to 45 participants will receive a special dru…

This early study tests whether a smart brain implant can help people with spinocerebellar ataxia type 6, a condition that causes trouble with balance and coordination. Five adults will get the implant, which records brain signals and adjusts stimulation automatically. The goal is…

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 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 early-stage trial tests a new treatment called AchromoPhage, a mix of four viruses that specifically kill Achromobacter bacteria, in 12 adults with cystic fibrosis and chronic lung infections. Participants will receive the treatment by inhalation, IV, or both over three week…

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 a drug called exaluren in 24 people aged 12 and older with Alport syndrome caused by specific genetic errors. The drug is given as a daily shot for 32 weeks. Half the group starts exaluren right away, while the other half gets a placebo first and then switches to…

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 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 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 Phase 2 trial is testing tislelizumab, an immunotherapy drug, in 200 people with advanced solid tumors that have specific genetic changes (MSI-H or dMMR) and have not responded to prior treatments. The drug works by blocking PD-1, helping the immune system recognize and atta…

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 phase II trial is testing a stem cell transplant from a half-matched donor for people with severe sickle cell disease. Participants receive chemotherapy, radiation, and immune-suppressing drugs before the transplant to help the new cells take hold. The main goal is to see if…

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 early-stage trial tests a single dose of an experimental oral drug called GenSci144 in healthy adults. The drug aims to block a transporter in the gut to reduce phenylalanine levels, which could help manage phenylketonuria (PKU). The study focuses on safety and how the body …

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 early-stage trial tests an experimental drug called PL54 in adults aged 18 to 55 with phenylketonuria (PKU), a genetic disorder that prevents the body from breaking down the amino acid phenylalanine. PL54 is an enzyme designed to help lower high blood phenylalanine levels, w…

This study is testing an experimental drug called DNL628 in people with early-stage Alzheimer's disease. The main goal is to see if the drug is safe and how the body processes it. About 68 participants will receive either DNL628 or a placebo. This is an early-phase trial, so it f…

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 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 early-stage trial is testing whether specially engineered immune cells (called CAR-T and CTL cells) and a dendritic cell vaccine can safely treat people with neurofibromatosis or schwannomatosis, conditions that cause nerve tumors. The study will enroll 100 participants aged…

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 trial investigates whether specially engineered T cells can safely target and fight lung cancer. Participants have advanced or relapsed lung cancer and receive a single infusion of their own T cells that have been trained to recognize cancer-specific markers. The study aims …

This trial investigates whether specially engineered immune cells (CAR-T cells) can safely treat advanced or recurrent cervical cancer. The cells are designed to recognize and attack cancer cells that carry certain markers like GD2 or Mesothelin. The study involves 20 adults with…

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 adding methotrexate (a drug that calms the immune system) can help adults with PKU tolerate and respond better to Palynziq, a protein-based treatment. About 12 adults who either haven't taken Palynziq before or have high blood Phe levels despite treatment…

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 early-phase study is testing a new drug called 131I-apamistamab, which combines an antibody with radioactive iodine, to prepare people with severe sickle cell disease for a bone marrow transplant. The goal is to find the smallest effective dose that allows the donor stem cel…

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 phase 2 trial tests a stem cell transplant from a donor for people with high-risk sickle cell disease, thalassemia, and other red blood cell disorders. Participants receive drugs and low-dose radiation before the transplant to help the new cells take hold. The study will tra…

This early study tests a new device that uses a special wire with radiofrequency energy to safely cross the wall between the heart's upper chambers. This step is needed for procedures that treat heart rhythm problems or close the left atrial appendage. The study will enroll 60 ad…

This study is testing a stem cell transplant from half-matched (haploidentical) donors for people with sickle cell disease or beta-thalassemia. Before the transplant, patients receive drugs to lower their immune system, which may reduce the risk of serious side effects like graft…

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 looks at how safe and effective a less invasive heart valve replacement (called Sapien 3 TAVR) is for younger patients (ages 50-70) in China with severe aortic stenosis. Researchers will track 450 participants for up to 5 years to see survival rates and complications. …

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 tracks 20 adults with cystic fibrosis who are starting Trikafta to see if it reduces shortness of breath and improves exercise performance over two years. Participants will do exercise tests and report their breathing symptoms. The goal is to understand how this medica…

This study tests whether a weekly injection of dulaglutide, a GLP-1 drug used for diabetes, can improve early insulin release in adults with cystic fibrosis who have trouble processing sugar. About 30 participants will receive the drug or no drug in a crossover design. The goal i…

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 study tests an experimental drug called SPL84 in adults with cystic fibrosis who have a specific genetic mutation (3849+10kb C->T). The drug is inhaled weekly for 9 to 12 weeks. Researchers want to see if it is safe and if it can improve lung function. Some participants will…

This early-phase study tests a new approach to stem cell transplants for sickle cell disease. It uses a half-matched (haploidentical) donor, which could help more patients find a donor. Before the transplant, patients receive two cycles of immune-suppressing therapy to prepare th…

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 early-stage study tests a new gene therapy called KB407, given as a mist through inhalation, in 20 adults with cystic fibrosis. The goal is to see if it is safe and can improve lung function by delivering a working copy of the CF gene to lung cells. Participants will receive…

This study looks at bone health in people with cystic fibrosis (CF) and tests a drug called denosumab to treat bone disease. Up to 100 participants, including both CF patients and healthy volunteers, will have bone scans and blood tests. A smaller group of 10 CF patients with bon…

This study tests a new device called the CellFX Nano-PFA 360 catheter, which uses very short electrical pulses to treat atrial fibrillation (an irregular heartbeat). About 60 adults aged 18 to 75 with paroxysmal atrial fibrillation will receive this procedure. The goal is to see …

This study tests an experimental drug called AVTX-803 in people with leukocyte adhesion deficiency type II (LAD II), a rare genetic condition that weakens the immune system and leads to frequent infections. The trial will compare the drug against a period without treatment to see…

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 study tests whether a smartphone app can help people with chronic kidney disease (CKD) follow the latest KDIGO treatment guidelines. Researchers will enroll 80 adults aged 16-30 with CKD who own a smartphone. The app provides reminders, education, and care recommendations to…

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 tests whether combining two drugs—regorafenib (a targeted therapy) and envafolimab (an immunotherapy)—can help people with advanced GIST that has a specific gene change (KIT exon 17 mutation) and has stopped responding to standard treatments. About 100 adults will be r…

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 lotion called QRX003 in people with Netherton Syndrome, a rare genetic skin condition. About 16 participants aged 4 and older will apply the lotion twice daily for 12 weeks. Researchers will check if it improves skin appearance and reduces itching.

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 trial is testing whether giving the immunotherapy drug pembrolizumab before surgery can improve outcomes for people with high-risk stage 2 or stage 3 colorectal cancer that has a specific genetic feature called mismatch repair deficiency. About 88 participants will receive p…

This study looks at a non-surgical procedure called renal embolization to shrink enlarged kidneys in 30 dialysis patients with autosomal dominant polycystic kidney disease (ADPKD). The goal is to reduce kidney size enough to make a future kidney transplant possible and improve co…

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 study tests a one-time treatment using CRISPR to fix the sickle cell gene in a patient's own blood stem cells. Up to 9 people aged 12 to 35 with severe sickle cell disease will receive the edited cells. The goal is to reduce painful blockages in blood vessels and improve qua…

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 tests a new drug called EIK1005, alone or with another drug (pembrolizumab), in people with advanced solid tumors that have not responded to other treatments. The goal is to find a safe dose and see if the drug shrinks tumors. About 160 adults with certain cancer types…

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 study tests a combination of four drugs (sintilimab, ipilimumab, cetuximab, and dabrafenib) in people with a specific type of advanced colorectal cancer that has a BRAF V600E mutation and is microsatellite stable. These cancers are hard to treat and don't respond well to sta…

This study tests a special stem cell transplant for children and adults with blood cancers like leukemia. The transplant uses stem cells that have had certain immune cells removed to lower the risk of graft-versus-host disease, a serious complication. About 70 participants will r…

This study tests a drug called N-acetyl-L-leucine (IB1001) in people aged 4 and older with Niemann-Pick disease type C, a rare genetic disorder that affects movement and thinking. The trial compares the drug to a placebo to see if it improves coordination and quality of life. Aft…

This study tests whether a device that flashes light and plays sound at a specific frequency (40Hz) can help people with mild Alzheimer's. Sixty participants will use the device at home for an hour each day over six months. Researchers will check brain waves, memory, and blood ma…

This study tests whether metformin, a drug used for diabetes, can slow the loss of kidney function in people with early-stage autosomal dominant polycystic kidney disease (ADPKD). About 1,174 adults aged 18-70 with mild to moderate kidney decline will take metformin or a placebo …

This 10-year study will follow 200 people with PKU who are taking or about to start Pegvaliase (Palynziq). Researchers will monitor immune reactions, inflammation, and lab results to better understand long-term safety. The goal is to improve management of side effects like allerg…

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 an oral drug called osivelotor in about 389 adults and adolescents with sickle cell disease. The goal is to see if it can raise hemoglobin levels and reduce the number of painful vaso-occlusive crises. Participants will take the pill daily, and researchers will m…

This study tests whether a phenylalanine-free diet, similar to that used for a rare genetic condition, can safely lower high blood phenylalanine levels in critically ill adults in the ICU. High phenylalanine in these patients is linked to a higher risk of death and brain problems…

This study follows 15 adults (ages 22–90) with severe, long-term balance disorders caused by inner ear damage. Participants have already received a vestibular implant, a device that electrically stimulates the balance nerve to help restore steadiness and clear vision during movem…

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 is for people with a certain type of locally advanced rectal cancer (pMMR/MSS) that often doesn't respond well to immunotherapy alone. The trial combines an immunotherapy drug (serplulimab) with chemotherapy (CAPEOX) and an anti-inflammatory drug (celecoxib) to see if …

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 a device called PTeye™ that uses near-infrared light to help surgeons see and protect tiny parathyroid glands during total thyroid removal. About 210 adults in Hong Kong will be randomly assigned to standard surgery or PTeye™-assisted surgery. The goal is to see …

This early-phase trial is testing a new drug called 177Lu-RAD204, which is a radioactive antibody designed to seek out and destroy cancer cells that have a protein called PD-L1 on their surface. The study will involve 30 adults with advanced solid tumors (like lung, breast, or sk…

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 study tests a new daily pill called YCT-529 for male contraception. It involves 88 healthy men who have decided not to have children. The pill is taken for 28, 90, or 180 days to check its safety, side effects, and how well it works. This is an early step toward giving men a…

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-phase trial is testing a new treatment called CS-101 for severe sickle cell disease. It uses a person's own blood stem cells, which are gene-edited in a lab to correct the disease, then given back as a one-time infusion. The study will enroll 5 people aged 12 to 35 and…

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 early-phase trial tests a new drug called Sapu003, given with or without exemestane, in adults with advanced cancers that respond to mTOR pathways—including certain breast, kidney, liver, and neuroendocrine tumors. The main goal is to find the safest dose and check for side …

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 early-stage trial tests a new medicine called IMSB301 in people with rare diseases where the immune system attacks the body. The study includes up to 6 participants aged 12 and older. The main goal is to check if the drug is safe and how it behaves in the body.

This study tests a vestibular implant in 15 older adults (ages 65-90) with chronic balance issues due to bilateral vestibular hypofunction. The implant electrically stimulates the inner ear to improve balance and vision. Researchers will measure changes in gait and eye reflexes o…

This early-phase trial tests a single injection of JWK010 gene therapy in 18 children aged 5 to 12 with oculocutaneous albinism type 1 (OCA1). OCA1 is caused by a gene change that prevents the body from making pigment, leading to vision problems and light sensitivity. The therapy…

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 study tests a vestibular implant, a device surgically placed in the inner ear to electrically stimulate balance nerves. It aims to improve balance, posture, and vision in up to 8 adults with bilateral vestibular hypofunction, a condition causing chronic dizziness and instabi…

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 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 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 whether a new type of PET scan using a radioactive tracer called 18F-FCH can more accurately locate overactive parathyroid glands or tumors before surgery. About 193 adults scheduled for parathyroid removal will receive both the new scans and a standard 4D-CT sca…

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 is testing a new stool DNA test (mt-sDNA 2.0) to see how well it detects colorectal cancer or advanced growths in people with Lynch syndrome, a genetic condition that raises cancer risk. Researchers will collect blood and stool samples from 950 participants and compare…

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 testing a new imaging agent called 18F-T2, which is designed to highlight tumors that produce a protein called CAIX. About 200 adults with various cancers (like kidney, lung, or breast cancer) will receive an injection of 18F-T2 and then undergo a PET/CT scan. The g…

This study is testing a special MRI scan that uses xenon gas to take detailed pictures of lung function. It includes 260 healthy volunteers and people with lung diseases like asthma, COPD, and cystic fibrosis. The goal is to see if this method can better detect and measure lung p…

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 looks at whether a bedside ultrasound (POCUS) can help doctors quickly diagnose acute chest syndrome in children and young adults with sickle cell disease. Researchers will enroll 30 hospitalized patients aged 0-25 to see if the ultrasound is practical and reliable com…

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 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 tests a new, low-cost skin sensor that measures salt in sweat to diagnose cystic fibrosis. Researchers will compare the device to the standard lab test in 30 adults—some with CF and some healthy. The goal is to see if the sensor is accurate enough for routine use.

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, 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 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…

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 study tests whether Acceptance and Commitment Therapy (ACT), delivered through a smartphone app, can help caregivers of children with RASopathies (like Neurofibromatosis type 1 and Noonan syndrome) cope with parenting stress. The trial is fully remote and involves 70 adult c…

This study tests an investigational drug called CSL889 in 70 adults and adolescents with sickle cell disease who are having a painful vaso-occlusive crisis. The goal is to see if the drug can safely shorten the crisis and reduce the need for strong pain medicines. Participants wi…

This study looks at whether acupuncture can reduce pain in people with sickle cell disease. Researchers will also use brain scans and other tests to understand how acupuncture works. The study involves 120 participants aged 14 to 80 who have chronic pain or recent pain crises.

This pilot study explores whether digital neurotherapy or coaching with a wellness coach can help manage depressive symptoms and pain in people with autosomal dominant polycystic kidney disease (ADPKD). Participants will be assigned to one of these approaches or to an education-o…

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 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 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 early-phase trial tests a new nasal ointment called TOR-582, which contains sirolimus, in 27 adults with hereditary hemorrhagic telangiectasia (HHT) who have frequent nosebleeds. Participants apply the ointment inside their nostrils twice daily for 12 weeks, with different s…

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 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 looks at whether a fermented whey protein and fiber supplement can improve digestive comfort in recreational athletes. Researchers will enroll 114 participants, some with and some without stomach complaints, and compare the supplement to a placebo. The goal is to see i…

This study tests a 12-week exercise and nutrition program called SickleFit in 40 adults aged 35 and older with sickle cell disease. The goal is to see if the program is safe, doable, and liked by participants. It does not aim to cure the disease but to improve fitness and quality…

This study tests a program called PRISM that aims to help teens and young adults with sickle cell disease build resilience and cope better. Researchers will check if the program is easy to use and liked by participants. They will also see if it helps reduce depression, anxiety, a…

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 tests whether a special cooling cap can prevent hair loss in children receiving chemotherapy for non-cancerous conditions or solid tumors. The cap is worn before, during, and after chemo to keep the scalp cool. Researchers want to see if it is safe and tolerable for 40…

This study examines whether the drug omaveloxolone can ease swallowing difficulties in people with Friedreich's ataxia, a rare nerve disease. About 40 French patients who have taken the drug for at least six months will fill out a swallowing questionnaire. The goal is to see if t…

This pilot study tests whether Maralixibat, a drug that increases bile acids in the colon, can improve stool consistency in 20 children with cystic fibrosis who have chronic constipation. Participants will take the drug for two weeks alongside their usual laxatives. The goal is t…

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 tests whether a natural substance called citrulline, given through an IV, can help children and teens with sickle cell disease recover faster from severe pain episodes. About 99 hospitalized participants aged 4 to 21 will receive either citrulline or a placebo for 16 h…

This study tests whether upper and lower limb exercises can improve muscle strength, aerobic capacity, and lung function in children aged 6-18 with cystic fibrosis. Participants will do arm or leg cycling exercises. Researchers will measure changes in walking distance, lung funct…

This study tests whether tenapanor, a drug already approved for irritable bowel syndrome with constipation, can help people with cystic fibrosis who have constipation. Twenty-five adults will take a 50 mg tablet twice daily for 4 weeks and track their bowel movements and symptoms…

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 looks at whether 3D-printed dentures fit better and make patients happier than traditional acrylic dentures in people with ectodermal dysplasia, a rare condition that affects teeth and other body parts. About 11 people aged 10 to 35 who have some remaining teeth will t…

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 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 tests whether a self-help version of Acceptance and Commitment Therapy (ACT), delivered via smartphone, can reduce anxiety and depression in adults with cystic fibrosis. About 60 participants will use the toolkit and report their symptoms. The goal is to improve mental…

This pilot study tests whether a custom splint called a Relative Motion Orthosis (RMO) can help people regain finger motion after an injury that causes stiffness. Sixty-four adults with a stiff middle finger joint will be randomly assigned to receive either standard therapy (stre…

This study tests whether a stress management and mindfulness program can improve quality of life for adults with sickle cell disease. The program includes techniques from cognitive-behavioral therapy, relaxation exercises, and mindfulness meditation. Researchers will enroll 50 pa…

This study tests a telehealth program called C-READY that helps teens with sickle cell disease improve thinking skills like planning and problem-solving. The goal is to prepare them to manage their own health care as they grow up. About 120 teens aged 10-18 will take part, and th…

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 tests a 12-week supervised rehabilitation program for people with two rare genetic conditions that cause walking and balance problems (spastic ataxias). The program includes twice-weekly therapy sessions and once-weekly pool exercises. Researchers want to see if it red…

This study tests whether a smartphone-based mindfulness program is practical and liked by teens and young adults (ages 15-39) with sickle cell disease who have chronic pain or sleep problems. Participants use a guided meditation app for about 8 weeks. The goal is to see if people…

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 using a CPAP breathing mask during radiation therapy for early-stage breast cancer can lower radiation doses to the heart and lungs. About 53 women with left-sided breast cancer will receive radiation with CPAP support. The goal is to reduce long-term hea…

This study looks at whether foam sclerotherapy can reduce pain and improve quality of life for people with autosomal dominant polycystic kidney or liver disease who have large, painful cysts. Researchers will treat 100 adults with 1-3 dominant cysts and follow them for 12 months.…

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 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 tests a short-term behavioral program called Show Me FIRST to help teens with PKU manage anxiety and depression. Thirty adolescents will be randomly assigned to receive the program right away or after a wait period. The researchers will also check if new phone-based te…

This study is collecting long-term safety and effectiveness data on treatments for various blood disorders, including hemophilia, sickle cell disease, and clotting disorders. It aims to enroll 3000 people of any age with these conditions. Researchers will monitor side effects, co…

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 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 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 natural history study is observing up to 250 people with Smith-Lemli-Opitz syndrome and related cholesterol disorders, as well as their relatives. Researchers will track symptoms, development, and lab results over several years to find better ways to measure disease progress…

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 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 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 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 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 …

This study looks at how differences in the PKLR gene might change sickle cell disease symptoms. Researchers will collect blood samples from 800 adults of African descent, with and without sickle cell disease, to measure certain proteins and energy molecules in red blood cells. Th…

This study is developing questionnaires to measure how visible tumors in neurofibromatosis type 1 (NF1) affect patients' appearance concerns. About 110 participants, including children, adults, and caregivers, will complete surveys and join focus groups or interviews to give feed…

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 families with a history of inherited kidney cancer to learn more about the disease's genetic causes and how it progresses. Researchers will collect blood, tissue, and urine samples from affected individuals and their relatives. The goal is to identify new genes…

This study aims to learn more about RASopathies, a group of genetic conditions that can cause developmental issues, birth defects, and increased cancer risk. Researchers will follow up to 500 people of any age who have or may have a RASopathy, along with their family members, for…

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 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 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 looks at how the body processes repinatrabit (JNT-517), an oral tablet for phenylketonuria, in people with moderate liver impairment or severe kidney impairment. It compares these results to those from healthy volunteers of similar age, weight, and sex. The goal is to …

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…

This study looks at adults with sickle cell disease to see how their heart, brain, kidneys, liver, and lungs change after treatments meant to cure the disease. Researchers will compare people getting curative therapy (like a bone marrow transplant or gene therapy) with those who …

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 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 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 rare disorders that affect how the body processes chemicals called pyrimidines and purines. These disorders can cause problems in the brain, blood, kidneys, and immune system, ranging from mild to life-threatening. Researchers will compare test…

This study interviews patients and families who have experience with gene therapy for rare pediatric diseases, including sickle cell disease. Researchers want to understand their beliefs, attitudes, and what information they need. The goal is to create an online platform with edu…

This study creates a registry to collect medical information from people with rhizomelic chondrodysplasia punctata (RCDP) and closely related conditions. The goal is to better understand the natural history of these rare disorders and identify factors that may predict health outc…

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 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 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…

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.…

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 follows people with several types of spinocerebellar ataxia (SCA) — rare genetic diseases that cause balance, coordination, and speech problems — to learn how these conditions change over time. Researchers will collect blood samples, perform neurological exams, and use…

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 creates a detailed registry of people with hereditary hemorrhagic telangiectasia (HHT), a condition that causes abnormal blood vessels and bleeding. Researchers will track participants over time to collect information on symptoms, treatments, and disease progression. T…

This study aims to better understand heart disease in people with Friedreich's ataxia, a genetic disorder that affects coordination and often leads to life-threatening cardiomyopathy. Researchers will use cardiac MRI, echocardiograms, and exercise stress tests to measure heart fu…

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 observational study examines how a phenylalanine-restricted diet and PKU medications like sapropterin influence the gut microbiome in children aged 3-17. Researchers will compare stool samples from children with PKU and their healthy siblings to see if diet or drugs alter gu…

This international online study collects medical, behavioral, and developmental information from people with rare genetic changes that are linked to autism and other neurodevelopmental disorders. By partnering with families, researchers aim to build a detailed database to improve…

This study tests whether providing an information letter plus a booklet helps relatives of people with Lynch syndrome decide about genetic counseling and testing. About 185 untested relatives will be randomly assigned to receive either a basic letter or a letter plus a detailed b…

This study uses special brain scans (PET imaging) to measure two key proteins, amyloid and tau, in people with different forms of Alzheimer's disease. Researchers want to see how these protein levels change over one year. The study involves 60 adults with typical or atypical Alzh…

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 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 looks at how early childhood experiences—like breastfeeding, stress, and social factors—affect children with sickle cell disease. Researchers will test a community-based breastfeeding support program for mothers and track health outcomes like asthma and chest pain epis…

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 tracks women with Friedreich ataxia who took the drug omaveloxolone (SKYCLARYS) during pregnancy or while breastfeeding. Researchers will watch for birth defects, pregnancy complications, and health problems in the baby during the first year of life. The goal is to bet…

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 explores a new type of MRI that uses an inhaled gas to create images of lung ventilation in children ages 6-17. Researchers will compare results between children with mild cystic fibrosis and healthy children to see if the technique is feasible and sensitive to early l…

This study looks at how mucus plugs in the lungs affect breathing in people with severe asthma. Researchers will use special MRI scans to see air flow in blocked areas. Only 5 adults with severe asthma will take part, and the goal is to better understand lung function, not to tes…

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 reviews 10 years of medical records from 600 adults who had thyroid surgery at Minia University Hospital. The goal is to find out which patients are most likely to develop low calcium levels after surgery, a common complication. By identifying key risk factors, doctors…

This study looks at children under 15 with neurofibromatosis type 2 (NF2), a rare genetic condition that causes nerve tumors. Researchers want to see if skin and mouth lesions can help diagnose NF2 earlier than current methods, which rely on hearing, nerve, and eye symptoms. By e…

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 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 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 is building a large collection of blood, DNA, and tissue samples along with health records from up to 5,000 people with tuberous sclerosis complex (TSC) or a related condition called lymphangioleiomyomatosis. Participants can give blood or cheek swab samples and allow …

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 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 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 tracks 180 orthopedic patients in Cyprus to see if a single doctor visit changes how much they trust AI health information. Patients fill out surveys before and after their appointment, and doctors also report on the accuracy of any AI advice patients brought up. The g…

This study aims to determine how common sickle cell trait and sickle cell disease are across Uganda by analyzing up to one million blood samples. Researchers want to create a detailed map of where the condition is most prevalent, which could help improve healthcare planning. The …

This study follows 232 people with a bicuspid aortic valve (a heart valve with two flaps instead of three) over 10 years. Researchers want to learn how the condition naturally progresses and what factors lead to serious problems like valve disease or bulging of the aorta. Partici…

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 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 looks at whether girls with sickle cell disease have lower levels of a hormone called AMH, which is linked to egg supply, compared to healthy girls of the same age and puberty stage. Researchers will also check how treatments and pain crises affect these levels. About …

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 looks at people who have changes in a gene called FOXP1, which can cause developmental delays, speech problems, and autism-like traits. Researchers will use interviews, play-based assessments, and genetic tests to better understand these conditions. The goal is to lear…

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 looks at a new, less invasive way to monitor blood flow during heart ablation procedures. Doctors will use a special device to track heart function beat-by-beat. The goal is to see if this method helps improve care for 27 adult patients having heart ablation.

This study looks at whether certain molecules can fix nonsense mutations in the CFTR gene, which cause cystic fibrosis. Researchers will take cells from the noses of 85 people with cystic fibrosis and test different molecules to see which ones can restore the function of the CFTR…

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 looks at how the amount of muscle and fat in the body affects glucose tolerance and lung function in people aged 16-30 with cystic fibrosis. Researchers will use MRI scans and glucose tests to track changes over two years. The goal is to use this information to improve…

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 looks at whether a special camp that teaches teens and young women with PKU or MSUD about their condition and nutrition can improve their pregnancy outcomes and quality of life. Researchers will compare the results of women who attended the camp to those who did not. T…

This study uses special cameras to take ultra-detailed pictures of the back of the eye in people with retinal diseases like macular degeneration and retinitis pigmentosa. Researchers aim to develop new ways to diagnose and track these conditions by measuring cell density and func…

This study looks at why people with cystic fibrosis often develop kidney disease. Researchers will test blood and urine samples for early signs of kidney damage, comparing CF patients with and without frequent hospital stays, as well as people without CF. The goal is to find bett…

This study aims to find out why some people with sickle cell disease develop severe, disabling chronic pain while others do not. Researchers will enroll 70 participants aged 15 to 40 and use surveys, virtual visits, and in-person pain sensitivity tests to track pain and related o…

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 talks to parents and teens with sickle cell disease to learn what they think about genetic research and gene therapy. Researchers will use surveys and interviews to understand concerns and expectations. The goal is to create better educational tools and build trust bet…

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 study is looking for new genes and blood markers linked to arrhythmogenic cardiomyopathy (AVC), a genetic heart condition that can lead to heart failure and sudden cardiac arrest. Researchers will enroll 1,000 people, including patients with AVC or unexplained cardiac arrest…

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 compares genetic counselling done by video (telegenetics) with traditional in-person sessions for people at risk of hereditary breast, ovarian, or colorectal cancer. Researchers will measure how well patients understand their options, their emotional responses, and the…

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 is a large registry that collects health information from up to 200,000 people with blood disorders such as hemophilia, thrombosis, and sickle cell disease. Participants are seen at Hemophilia Treatment Centers across the U.S. The goal is to gather real-world data to h…

This study is testing whether a swallowed video capsule (a pill-sized camera) can help find small bowel cancer early in people with Lynch syndrome, a genetic condition that raises cancer risk. About 100 participants will swallow a capsule every two years to take pictures of their…

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 looks at whether giving mothers in Brazil an extra $40 per month (compared to just $2) can protect their children's brain development and mental health. About 450 children aged 7-10 from low-income families will be followed for 2 years. Researchers will measure stress,…

This study follows people with von Hippel-Lindau (VHL) disease who have pancreatic tumors or cysts. The goal is to learn how these growths change over time and to see if a special type of scan (68-Gallium DOTATATE PET/CT) can find them better. Participants will have regular check…

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 looks at how different meals before exercise affect amino acid levels in adults with phenylketonuria (PKU). Ten participants will try water, carbohydrates, or protein before doing aerobic and resistance exercises. Researchers will measure changes in blood amino acids t…

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 follows 300 people with a rare genetic movement disorder called SCA27B, along with some family members and healthy volunteers, for up to 2 years. Researchers will use exams, digital devices, and blood tests to measure how the disease changes over time. The goal is to f…

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…

This Phase 1 trial tests the safety and how the body handles VX-272, an experimental drug for cystic fibrosis. About 128 healthy volunteers will receive single or multiple doses of the drug or a placebo. The study focuses on side effects and drug levels in the blood, not on treat…

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 aims to find early markers of Parkinson's disease, multiple system atrophy, and Lewy body dementia by analyzing samples from the nose, blood, and urine. Researchers will compare results from 180 people with these conditions and healthy volunteers. The goal is to improv…

This study looks at how cystic fibrosis affects children's breathing, muscle strength, bladder control, and daily life compared to healthy kids. Researchers will measure grip strength, lung function, and other health markers in 50 children aged 6-18. The goal is to identify probl…

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 is looking for proteins and other markers in exhaled breath that could help doctors monitor lung inflammation and infections in people with asthma or cystic fibrosis. Researchers will collect breath samples from 450 participants (including healthy volunteers) and compa…

This study looks at how hormone levels change after a mixed meal in people with cystic fibrosis. Researchers want to find links to blood sugar problems common in this condition. About 61 adults aged 18-45 with cystic fibrosis will participate. No treatment is given; this is an ob…

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 creates a worldwide database for people with DRPLA, a rare genetic brain disorder. Participants or their caregivers fill out questionnaires about symptoms, daily life, and disease impact. The goal is to gather information to help researchers better understand DRPLA and…

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 looks at whether breathing a lighter gas mixture (heliox) can make it easier to breathe and think clearly when breathing is hard. Fifteen healthy adults will breathe normal air or heliox while doing thinking tests. The goal is to see if reducing the work of breathing i…

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 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 follows up to 150 people with hearing loss caused by changes in the otoferlin gene. Researchers will measure hearing function using tests like auditory brainstem response (ABR) and otoacoustic emissions (OAE). The goal is to learn how this type of hearing loss changes …

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 tests whether a balloon device, called REBOA, can be safely used by emergency teams outside a hospital to improve blood flow in people whose heart has stopped (cardiac arrest). The balloon is inserted into the main artery and inflated to redirect blood to the heart and…

This study is testing two new types of lung MRI that use special gases (xenon and perfluoropropane) to create detailed images of lung function. Researchers will compare these scans in 30 people with cystic fibrosis, asthma, and healthy volunteers to see if they can spot lung prob…

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 is creating a large network of hospitals across Italy to improve the diagnosis and understanding of rare cerebrovascular diseases (rCVDs), such as CADASIL, Fabry disease, and Moyamoya. Researchers will collect medical information and blood samples from 500 patients to …

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 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 tracks children and adults with genetic developmental and epileptic encephalopathy (DEE) over time. It does not test any treatment but collects information on development, seizures, and quality of life through in-person visits, virtual visits, or online surveys. The go…

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 looks back at nearly 2,000 people who had genetic testing for the TP53 gene, which is linked to a high risk of many cancers. Researchers want to find out how often harmful changes in this gene occur and how they differ across groups. The goal is to improve genetic coun…

This study looks at whether measuring a substance called copeptin in the blood can help doctors diagnose central diabetes insipidus (CDI) in children after brain surgery. CDI causes extreme thirst and frequent urination due to a hormone imbalance. The study will track copeptin le…

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 creates a registry of people with pancreatic diseases or a high risk for pancreatic cancer, such as those with a family history or certain genetic mutations. Researchers will collect medical information and blood samples to study how these conditions develop over time.…

This study aims to find genes that cause eye misalignment (strabismus) and related conditions involving the cranial nerves and brainstem. Researchers will analyze DNA from up to 20,000 participants with these disorders. The goal is to better understand the genetic causes, which c…

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 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 aims to find the genetic causes behind certain allergic and immune system disorders. Researchers will collect blood, saliva, and tissue samples from up to 10,000 people of all ages, along with some family members. No treatments are given; the goal is simply to learn mo…

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 what a doctor wears affects how much patients trust them. Researchers will survey 200 adults admitted to a hospital medical-surgical unit. Patients will rate their trust based on whether the doctor wears traditional attire (street clothes and white coa…

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 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 is building a registry of 100 people with hearing loss caused by changes in the CABP2 gene. Researchers will collect hearing test results and genetic information to learn how the condition progresses over time. The goal is to better understand the disease, not to test …

This study looks at how a standard immunotherapy drug (anti-PD1) changes the appearance and biology of atypical moles in people with advanced melanoma. Researchers will track 30 patients to see if the drug alters mole size, color, and cellular features. The goal is to better unde…

This study follows 150 cystic fibrosis patients starting the drug combination Trikafta (ETI) to see how it affects their metabolism, DNA methylation, and gut bacteria. Researchers will measure blood fats, sugars, and immune markers, and link them to drug levels. The goal is to un…

This study aims to create a standardized quality system for confocal enteroscopy, a technique that lets doctors see cells in real time during a small bowel exam. Researchers will enroll 600 people aged 18-70 who need small bowel endoscopy, along with certified gastroenterologists…

This study collects information from pregnant women with Tuberous Sclerosis Complex (TSC) or Lymphangioleiomyomatosis (LAM) and their babies. Researchers will monitor medication use, side effects, pregnancy complications, and mental health after birth. The goal is to better under…

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 aims to understand why many people with cystic fibrosis develop diabetes. Researchers will give two gut hormones, GLP-1 and GIP, to 45 adults with cystic fibrosis and measure how their pancreas releases insulin. The goal is to learn more about cystic fibrosis-related d…

This study follows 45 people with PKU who are taking Palynziq to see how the drug changes their diet, brain health, and nutrition. Researchers will track protein intake and blood levels over time. The goal is to understand the full impact of Palynziq beyond just lowering phenylal…

This study is creating a large database to collect information on people with rare diseases like amyloidosis, sarcoidosis, and Gaucher disease. Researchers will track patients' health over time, including their symptoms, treatments, and outcomes. The goal is to improve diagnosis …

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 follows 660 adults with CADASIL, a genetic condition that causes strokes and dementia, for up to 5 years. Researchers will use brain scans, memory tests, and blood samples to track how the disease progresses from its earliest stages. The goal is to identify factors tha…

This study looks at new ways to measure lung changes in people with cystic fibrosis (CF) aged 12 to 21. Researchers will use a special MRI with a breathable gas called Xenon, along with a lung function test called LCI, to see how stopping or restarting airway clearance treatment …

This study aims to understand how oxidative stress and the body's antioxidant defenses work in early stages of autosomal dominant polycystic kidney disease (ADPKD). Researchers will measure various biomarkers in blood and urine, and use MRI to measure kidney size. The goal is to …

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 study collects information from people with ASXL-related disorders (such as Bohring-Opitz syndrome) to better understand how these conditions progress and are managed. No new treatments are tested; instead, participants share their medical history and records through surveys…

This study looks at tiny particles called extracellular vesicles in the blood of women with a rare lung disease called LAM. Researchers want to see if these particles can act as biomarkers to show how the lungs are affected. The study will compare women with different forms of LA…

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 follows people with peroxisome biogenesis disorders (PBD) to learn more about how the disease progresses. Researchers will collect medical records, test results, and images over time from up to 244 participants. No new treatments are being tested; the goal is to better…

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 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 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 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 aims to better understand bronchiectasis, a chronic lung disease, in Chinese patients. Researchers will collect data from 1500 adults to identify different disease types and their underlying causes. The goal is to improve diagnosis and tailor treatments for each patien…