Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,762 recruiting studies in this area right now.
By phase
- Not applicable2,682
- Phase 2280
- Phase 1239
- Phase 3209
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- Duchenne Muscular Dystrophy36
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)29
Leading sponsors
- Assistance Publique - Hôpitaux de Paris57
- Mayo Clinic39
- Boston Children's Hospital38
- National Institute of Allergy and Infectious Diseases (NIAID)38
- IRCCS Azienda Ospedaliero-Universitaria di Bologna32
- Children's Hospital Medical Center, Cincinnati31
- Hospices Civils de Lyon29
- Children's Hospital of Philadelphia23
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
Where studies are running
- California324
- Maryland160
- Alabama133
- Massachusetts107
- Arizona88
- New York84
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT06773026RecruitingPhase 2
Sodium Phenylbutyrate for MCADD in Children and Adults
This trial tests a medicine called sodium phenylbutyrate (ACER-001) to see if it helps people with MCADD, a genetic condition that affects how your body breaks down fats. If you have MCADD and the common gene change, you might be able to join.
Pittsburgh, PennsylvaniaAges 4 years+ - NCT06772675Recruiting
Reducing vancomycin in NICU babies
This study asks NICUs to reduce the use of the antibiotic vancomycin. It's for hospital units that are part of certain networks and agree to follow the study plan.
Modesto, CaliforniaAges 18 years+ - NCT06772402Enrolling by invitation
Gene therapy for children with type 2 SMA
This trial tests a new gene therapy called GCB-001 for children with type 2 spinal muscular atrophy who can sit but not walk. It aims to improve muscle function and overall health.
Hangzhou, ZhejiangAges 2–12 - NCT06776822Enrolling by invitation
DNS therapy for asymmetry after heart surgery in children
This trial tests whether a special physical therapy called DNS (Dynamic Neuromuscular Stabilization) can help children aged 6 to 18 who have body asymmetry (uneven movement or posture) after surgery for a congenital heart defect. Participation may improve their balance and muscle control.
PragueAges 6–18 - NCT04987073Recruiting
Vitamin D type added for CYP24A1 vitamin D deficiency
This study tests a vitamin D-like medicine for people with a specific genetic cause of low active vitamin D (CYP24A1 deficiency). If you have the right gene change, it may help your body use vitamin D more normally.
Caen, NormandyAges 18 years+ - NCT03976180Recruiting
High-flow oxygen for painful sickle cell episodes
This trial tests whether giving high-flow oxygen can help treat a painful sickle cell “vaso-occlusive crisis” (VOC) and lower the risk of a serious lung complication. You may be eligible if you’re an adult with sickle cell disease experiencing an opioid-requiring pain flare and have higher risk for lung trouble.
CréteilAges 18 years+ - NCT06762002Recruiting
Immune system study for people with certain immune weaknesses
This study is for adults whose immune system has trouble fighting viruses due to specific antibodies or a genetic condition. Researchers want to follow these people over time to better understand the condition and improve care.
LilleAges 18 years+ - NCT06760546RecruitingPhase 3
Testing setmelanotide for weight gain after brain injury
This trial tests a daily injection called setmelanotide to see if it can help people who have gained weight due to a brain injury or condition affecting the hypothalamus. It may help reduce hunger and support weight loss.
Birmingham, AlabamaAges 4 years+ - NCT06763549Enrolling by invitation
AI-powered wearable patch for heart and lung monitoring
This study tests an AI-powered wearable patch (the COR ECG) to see if it can better track heart and lung health. It may help doctors find problems earlier without needing bulky equipment.
Melbourne, FloridaAges 18 years+ - NCT06761560RecruitingPhase 2/Phase 3
Hydroxyurea dosing for children with sickle cell anemia
This study looks at whether adjusting the dose of hydroxyurea based on drug levels in the blood works better than the standard approach for treating sickle cell disease in children. It aims to reduce side effects and improve treatment outcomes.
Montreal, QuebecAges 6 months–18 years - NCT06771687Recruiting
High-intensity interval training for heart conduit patients
This study tests whether high-intensity interval training (short bursts of intense exercise) can improve heart function and fitness in people who have a surgical tube (conduit) connecting their right ventricle to their pulmonary artery. It aims to find a safe and effective exercise program for those with this type of congenital heart condition.
Nijmegen, GelderlandAges 12–45 - NCT06764082Recruiting
Nutrition study for babies with biliary atresia
This study tests whether a special nutrition plan helps babies with biliary atresia recover better after Kasai surgery. It is for infants under 3 months old who are ready for surgery.
Wuhan, HubeiAges 1 day–3 months - NCT06754852RecruitingPhase 1/Phase 2
Study of HMB-002 for von Willebrand disease
This study tests a new medicine called HMB-002 for people with von Willebrand disease. It aims to see if the drug can help control bleeding without needing regular preventive treatments.
Phoenix, ArizonaAges 16–69 - NCT05360082Recruiting
Brain scan study comparing two PET tracers in Huntington disease
This study compares two different brain imaging tracers to see which one shows Huntington disease brain changes better. It may help improve how doctors measure and track Huntington disease using PET-MRI scans.
LeuvenAges 20–75 - NCT00313677Recruiting
Trial readiness for dystroglycan-related muscle conditions
This trial is for people who have signs that they may have a dystroglycanopathy—a group of muscle conditions. It helps study how ready participants are for care and possibly future treatments by using lab and genetic/pathology information to confirm the condition.
Iowa City, IowaAges Any age - NCT04639388Recruiting
Learning about psychosis in children with 22q11.2 deletion syndrome
This study looks at how “psychotic disorders” (like unusual beliefs, hallucinations, or thought changes) show up in children with 22q11.2 deletion syndrome. It mainly focuses on understanding the condition and may help improve care in the future.
Lyon, Auvergne-Rhône-AlpesAges 4–13 - NCT05809635Recruiting
Study for BEST1-related macular eye disease
This trial is studying people with BEST1-associated vitelliform macular dystrophy, a genetic eye condition affecting central vision. It will involve several eye-related study visits over about three years, aiming to better understand the condition and how it is managed.
New York, New YorkAges Any age - NCT06214767Recruiting
Study of treatment choices for untreated brain cavernous malformations
This study looks at how to best treat people with untreated cerebral cavernous malformations (a cluster of abnormal blood vessels in the brain). It compares outcomes between those who have surgery and those who are monitored with regular check-ups, and will follow participants for a long time to see how they do.
Beijing, Beijing MunicipalityAges Any age - NCT06468774Recruiting
Test for gut ischemia in chronic belly artery disease
This study tests a blood marker for chronic mesenteric ischemia (poor blood flow to the gut). If it works, it could help doctors diagnose the condition faster and more easily.
Oslo, OsloAges 18 years+ - NCT06749366Recruiting
Finding Genes Linked to Cartilage Tumors and Blood Vessel Issues
This study uses genetic testing to find genes that cause certain types of cartilage tumors and blood vessel problems. If you or your child has one of these conditions, joining could help doctors understand what causes them and find better treatments.
Bethesda, MarylandAges 2–100 - NCT06747858RecruitingPhase 2
Testing a new inhaler medicine for cystic fibrosis
This study tests an experimental inhalable medicine called ARCT-032 for people with cystic fibrosis who cannot take or benefit enough from current CFTR modulators. The goal is to see if it safely improves lung function and quality of life.
Tucson, ArizonaAges 18 years+ - NCT06744569Enrolling by invitationPhase 1
Testing a new ointment for atopic dermatitis in healthy adults and patients
This trial tests a new ointment called CU-10101. It will first be tested in healthy volunteers to check safety, and then in people with atopic dermatitis (eczema) to see how well it works for mild to moderate symptoms.
Shanghai, Shanghai MunicipalityAges 18–65 - NCT05294978Recruiting
Testing a new light-based treatment for certain eye vision loss
This trial studies a light-guided eye treatment in people with generalized inherited retinal disease (a genetic cause of vision loss). It aims to see whether the approach works safely and can improve function for people whose vision is already significantly reduced.
San Francisco, CaliforniaAges Any age - NCT06743477Recruiting
Super transplant for severe thalassemia in children
This trial tests a new type of transplant (called 'super transplantation') for children with severe thalassemia. It aims to help those who cannot get a fully matched donor or have chosen not to have standard treatments.
Kunming, YunnanAges 7–12
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,762 recruiting medical genetics studies from the U.S. registry right now, out of 5,482 we cover in this area in total.
- What does “Genetic & congenital” cover here?
- Inherited and congenital conditions present from birth or written into the genes. We group each study into genetic & congenital based on the conditions it studies, so you can scan the whole therapeutic area at once and drill into a specific condition.
- How do I find a genetic & congenital trial near me?
- Use the search to filter genetic & congenital studies by location and eligibility. Every Clin2 trial page explains the criteria in plain English and offers a short, optional pre-screen for a fit read — the study team makes the final decision.
Other specialties
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov; specialty groupings are derived from each study’s conditions. Talk with your doctor about whether a specific trial is right for you.