Autosomal genetic disease

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 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 study tests a new 21-valent pneumococcal vaccine (PCV21) in 100 children and teens with sickle cell disease, aged 2 to 17. The goal is to see if it's safe and helps the body make antibodies better than the current 20-valent vaccine. Participants get one shot and are monitore…

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

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

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

This study 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 phase 2 trial tests a powerful mix of short-course radiation, chemotherapy (mFOLFOX6), an immunotherapy (PD-1 antibody), and a targeted drug (cetuximab or bevacizumab, depending on genetic markers) in people with high-risk rectal cancer that is mismatch repair proficient (pM…

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

This study tracks how well the drug Koselugo (selumetinib) works and what side effects it causes in people with Neurofibromatosis Type 1 and painful nerve tumors. About 200 patients in South Korea will be followed during their normal doctor visits. The goal is to confirm the drug…

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

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

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

This 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 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 early-stage trial is testing a new drug called AG-181 in 20 adults with phenylketonuria (PKU), a genetic condition that makes it hard to break down an amino acid called phenylalanine. The main goal is to check if the drug is safe and tolerable. Researchers will also measure …

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

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

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

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

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

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

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

This study tests an experimental drug called ultevursen for people with retinitis pigmentosa caused by a specific gene mutation (USH2A). The drug is injected into the eye and may help slow vision loss. The trial involves 81 participants, some of whom will receive a sham (fake) in…

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

This study 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 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 an experimental drug called REGN5093 in people with advanced non-small cell lung cancer that has a specific change in the MET gene. The first part finds a safe dose, and the second part checks if the drug can shrink tumors. About 231 participants will take part.

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

This 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 study tests a new drug called BMS-986470 in healthy volunteers and people with sickle cell disease. The goal is to check its safety, how the body processes it, and whether it might help control the disease. The trial is in early phases and involves about 184 participants.

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

This study tests an experimental drug called VX-407 in 24 adults with autosomal dominant polycystic kidney disease (ADPKD) who have specific changes in the PKD1 gene. The goal is to see if the drug can slow kidney growth and is safe. Participants take VX-407 tablets by mouth and …

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

This 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 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 new medicine called ALN-6400 for people with hereditary hemorrhagic telangiectasia (HHT), a condition that causes abnormal blood vessels and frequent nosebleeds. First, healthy volunteers will receive a single dose to check safety. Then, HHT patients will recei…

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

This study is the first time a new drug called PYC-003 is being tested in humans. It is for people with a genetic kidney disease that causes cysts to grow and damage the kidneys. The trial will first test the drug in healthy volunteers to check safety, then in patients with the d…

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

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

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

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

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

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

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

This 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 looks at whether a well-formulated ketogenic diet can delay the progression of polycystic kidney disease in 20 adults who are at high risk for kidney failure. Participants will follow the diet for one year and have regular blood tests, urine tests, and MRI scans to tra…

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

This program provides mirdametinib to individual patients with serious, life-threatening conditions like neurofibromatosis type 1 tumors or other MAP-K pathway diseases who have no other treatment options and cannot join a clinical trial. Each case requires approval from the comp…

This early study tests whether a drug called IMLYGIC, made from a modified herpes virus, can be safely injected into painful or disfiguring skin tumors in adults with NF1. Ten participants will receive up to 8 injections over 4 months. The goal is to see if the treatment is toler…

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

This 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 early-phase trial is testing a new daily pill called NDI-219216 for people with advanced solid tumors that have not responded to standard treatments. The study will first check safety and side effects, then look at whether the drug can shrink tumors. About 134 participants w…

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

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

This study tests a 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 oral drug, JNT-517, for adults with phenylketonuria (PKU), a genetic condition that causes harmful buildup of phenylalanine (Phe). About 120 adults will receive either JNT-517 or a placebo for 6 weeks, then all will receive JNT-517 for nearly a ye…

This early-phase study tests the safety of a one-time gene-edited stem cell treatment for people with severe sickle cell disease. The therapy uses CRISPR technology to boost fetal hemoglobin, which may reduce painful crises and other complications. Up to 25 participants aged 18 t…

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

This Phase 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 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 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 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 phase 2 trial is testing whether metformin, a common diabetes drug, can improve airway function in 30 adults with cystic fibrosis-related diabetes who are already on CFTR modulator therapy. Researchers will measure changes in ion channel activity in nasal cells. The study ai…

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

This study tests 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 trial tests a gene therapy called EHT102 for children with congenital hearing loss caused by mutations in the OTOF gene. Up to 30 children will receive a single injection in one ear to see if it safely improves hearing. The study is early-stage, focusing on safety and whethe…

This program provides crizanlizumab, a drug that may help reduce pain crises, to people with sickle cell disease who have no other treatment options. It is for patients who cannot join a clinical trial. The goal is to offer potential benefit when standard therapies are not availa…

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

This study tests an experimental oral drug called Alintegimod (7HP349) combined with two standard immunotherapies (ipilimumab and nivolumab) in people with advanced solid tumors like melanoma, lung, kidney, and liver cancers. The trial has two parts: first, finding a safe dose (p…

This study tests whether alendronate, a drug used for osteoporosis, can help adults with sickle cell disease who have bone damage (osteonecrosis). Thirty participants will take a weekly pill for 24 weeks. The main goals are to see if the treatment is feasible and safe, and to mea…

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

This study tests 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 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 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 early-stage trial tests a gene therapy called AAVrh.10hFXN for heart problems caused by Friedreich's ataxia, a rare genetic disease. The therapy delivers a working copy of the frataxin gene to help heart cells function better. 25 people aged 12 to 50 with heart involvement w…

This phase 2 trial is testing a new approach for people with a specific type of rectal cancer that has spread to a few other spots in the body (oligometastases). The treatment combines short-course radiotherapy, chemotherapy (CAPEOX), and an immunotherapy drug called serplulimab …

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 study tests a new drug called INZ-701 in up to 16 infants (up to 1 year old) with rare genetic conditions (ENPP1 or ABCC6 deficiency) that cause dangerous calcium buildup in arteries and other problems. The main goal is to check the drug's safety and how the body handles it,…

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

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

This study tests a one-time treatment called CTX001, which uses CRISPR gene editing to modify a patient's own stem cells to produce more fetal hemoglobin. The goal is to reduce or eliminate the need for blood transfusions in people with transfusion-dependent beta-thalassemia or s…

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 tests a new medicine called INZ-701 in babies up to 1 year old who have a rare genetic condition (ENPP1 deficiency) that causes severe hardening of the arteries and bone problems. The goal is to see if the drug can raise a key substance in the blood, improve survival, …

This early study tests whether a deep brain stimulator placed in the cerebellum can safely improve movement and balance in 5 adults with spinocerebellar ataxia type 6. The device automatically adjusts its stimulation based on the person's brain signals. The goal is to see if this…

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

This 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 early-phase study tests a single IV dose of NGGT002 gene therapy in 15 adults with phenylketonuria (PKU), a genetic disorder that causes harmful buildup of phenylalanine. The main goal is to check safety over one year, with long-term follow-up for five years. Researchers wil…

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 trial tests a gene therapy called AAVAnc80-hOTOF for people with severe hearing loss caused by mutations in the otoferlin gene. The therapy is given as a single injection into the inner ear during surgery. The study will check if the treatment is safe and if it can improve h…

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 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 single dose of a gene therapy called AB-1003 in 10 adults with a rare genetic muscle disease (LGMD2I/R9). The goal is to see if it is safe and can help improve muscle function. Participants must be able to walk or run 10 meters in under 30 seconds.

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 expanded access program offers a special stem cell purification technique (CD34+ selection) for patients undergoing stem cell transplants. The method removes many T-cells from the donated stem cells, which lowers the risk of a serious complication called graft-versus-host di…

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

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

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

This study tests 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 tests a radioactive tracer called 124I-AT-01 that binds to amyloid clumps in the body. Researchers want to see if PET/CT scans can detect amyloidosis in organs of people with CAPS who developed it from anakinra injections. Thirty adults will be scanned every 6 months f…

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

This study 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 is testing whether a fecal immunochemical test (FIT), which checks for blood in the stool, can accurately detect colorectal cancer in people with Lynch Syndrome. Lynch Syndrome increases the risk of colorectal cancer, and patients currently need regular colonoscopies. …

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

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

This study tests whether naproxen or aspirin can increase immune cells in the colon to prevent cancer in people with Lynch syndrome, a genetic condition that raises cancer risk. About 40 participants will take one of these drugs or a placebo for a short time. Researchers will mea…

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

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

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

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

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

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

This study tests whether using virtual reality (VR) goggles during a sickle cell pain crisis can help children and young adults feel less pain. Participants will either get standard pain treatment alone or standard treatment plus a calming VR underwater experience. Researchers wi…

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

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

This study tests two experimental drugs, siltuximab and erenumab, to see if they can safely reduce chronic pain in people with schwannomatosis, a condition that causes painful nerve tumors. About 40 adults with moderate-to-severe pain will receive either a drug or a placebo. The …

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 looks at whether following a Mediterranean diet can help reduce chronic pain in people with sickle cell disease. About 30 adults with sickle cell disease who have pain most days will try the diet and report their pain levels. Researchers will also check changes in gut …

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

This study tests whether 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 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 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 explores whether writing and playing songs with a music therapist can help teens (ages 11-18) with sickle cell disease feel less anxious and more resilient. Thirty participants will try the songwriting program and report changes in anxiety, mood, and pain-related stres…

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

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

This study tests a new MRI method that uses an inhaled gas to create detailed images of lung ventilation in people with cystic fibrosis. Researchers will track 30 adults with mild lung disease over a year, comparing the MRI results to standard breathing tests. The goal is to see …

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

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

This study follows children and adults with medullary thyroid cancer (MTC), often linked to a genetic condition called MEN2. Researchers will track how the cancer grows and affects health over time using regular check-ups, blood tests, and imaging. No treatment is given, but part…

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

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

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

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

This study 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 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 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 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 how sleep problems might affect thinking, memory, and brain health in 65 people aged 12–25 with sickle cell disease. Participants will use a home sleep monitor and complete thinking tests during a clinic visit. The goal is to understand links between nighttime…

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 gathers information from 125 people with von Hippel-Lindau (vHL) disease, a rare genetic condition that causes tumors. Researchers will track disease status, past surgeries and treatments, and quality of life. The goal is to better understand how vHL progresses over ti…

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

This study 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 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 is testing a device called the AlgometRx Nociometer to see if it can measure pain and other abnormal sensations in people with neurofibromatosis type 1 (NF1). The device uses a small electrode on a finger or toe to send painless signals and a camera to record changes i…

This study collects blood, bone marrow, and other samples along with health information from up to 1,716 people with non-cancerous blood diseases and their family members. Researchers will analyze the participants' genes to find new genetic causes of these conditions and understa…

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

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

This study 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 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 will follow 10,000 people with sickle cell disease for many years, tracking their health during regular clinic visits. Researchers want to learn how the disease damages organs over time and how treatments like hydroxyurea might help prevent that damage. A smaller part …

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 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 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 a new communication tool called 'Let's Get REAL' that helps children and teens (ages 8-17) and their families talk together about stem cell transplant or cellular therapy decisions. The goal is to see if the tool is easy to use and helpful for families. About 60 …

This study follows up to 5,000 people with autoinflammatory diseases (like NOMID, CANDLE, and juvenile dermatomyositis) and their healthy relatives. Researchers will collect medical history, blood samples, and imaging over 2-5 day visits to learn how these diseases work and find …

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

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

This study collects blood, 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 is for people with rare DNA repair disorders like Cockayne syndrome, xeroderma pigmentosum, or trichothiodystrophy. Researchers will watch how symptoms like movement and balance change over time. No treatments are given—the goal is to better understand these conditions…

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 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 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 is building a large database of health information from 5,000 people with ALS and other motor neuron diseases. Participants share details like symptoms, test results, and disease progression during regular clinic visits. The de-identified data is then shared with resea…

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

This study 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 how much protein adults with PKU need, based on their specific genetic mutation and the special medical foods they eat. Researchers will measure how the body processes a harmless tracer to find the right protein levels. The goal is to improve dietary recommend…

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

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

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

This pilot study is testing whether a whole-body MRI scan, analyzed by artificial intelligence, can reliably detect pre-cancerous changes in children with neurofibromatosis type 1 (NF1). Fifteen children will receive three MRI scans over a year. The goal is to see if the scans ar…

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 people with a type of inherited hearing loss (called DFNA) and their family members to learn which genes cause it. Researchers will collect hearing tests, balance tests, blood samples, and skin biopsies over up to 20 years. The goal is to gather information th…

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 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 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 looks at why the heart gets damaged in people with sickle cell disease. Researchers will use special PET scans to measure blood flow to the heart during rest and stress. They will compare results from 40 young adults—some with sickle cell disease and some without—to se…

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 collects bone marrow that is normally thrown away during surgery from people with and without blood disorders like sickle cell disease. Researchers will use these samples in the lab to learn how to better manipulate stem cells for gene therapy and to study cell health.…

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

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

This study 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 tests whether a virtual 8-week school readiness program helps preschool children (ages 3.5–6.5) with sickle cell disease improve social skills, early reading, and math. About 36 children and their caregivers will take part. The goal is to see if the program is practica…

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

This study 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 asks 500 people with Li-Fraumeni syndrome (or their parents) to fill out a questionnaire about why they would or would not join a future trial comparing standard genetic counseling to a personalized version. The goal is to understand what factors influence their decisi…

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

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 enrolls 130 Hispanic adults aged 55+ without dementia to see if a 12-week phone-based coaching program helps them become more active. Participants are randomly assigned to either the coaching program or a general brain health education group. The goal is to see if the …

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

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

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

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

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

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

This study 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 looks at whether online videos or a call with a peer navigator can help adults with neurofibromatosis 1 (NF1) who have low health literacy better understand their condition and care recommendations. Fifty participants across the U.S. will receive personalized care lett…

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

This study 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…