Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,767 recruiting studies in this area right now.
By phase
- Not applicable2,684
- Phase 2280
- Phase 1241
- Phase 3210
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)38
- 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
- Massachusetts108
- Arizona87
- New York85
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,767 total
- NCT05637814Recruiting
Screening for critical heart defects with extra blood flow checks
This trial tests if adding blood flow measurements to standard pulse oximeter screening better detects critical congenital heart disease in fetuses and newborns. It may help identify babies who need early heart care.
Davis, CaliforniaAges birth–3 weeks - NCT05636397Recruiting
Oral L-citrulline for fragile preterm babies with lung or bowel disease
This trial studies whether an oral medicine called L-citrulline (L-cit) is safe and how it works in very preterm infants. It includes two groups: babies with chronic lung disease (with or without high blood pressure in the lungs) and babies recovering from severe bowel infection (NEC).
Toronto, OntarioAges 1 month–6 months - NCT05671666Recruiting
Testing urea processing in healthy people and urea cycle disorder
This study measures how your body breaks down protein-related waste and makes urea. It includes both healthy volunteers and people with urea cycle disorders, which may help researchers better understand the condition and improve testing.
Zurich, Canton of ZurichAges Any age - NCT05662111RecruitingPhase 2
Etidronate treatment for brain calcifications in Fahr disease
This Phase 2 study tests whether etidronate (a medicine that affects bone-calcium handling) can help people with Fahr disease or a similar condition marked by calcium deposits in the brain. It will also check safety and whether certain tests can track changes over time.
Utrecht, UtrechtAges 18 years+ - NCT05644522Recruiting
At-home brace study for leg support and walking
This study tests an at-home wearable activity monitor and brace-related walking support for people who already use a knee-ankle-foot brace. It may help researchers understand how brace use and day-to-day movement relate to walking ability.
Chicago, IllinoisAges 18–89 - NCT05654272Recruiting
Testing CIRC imaging technology for people with heart problems
This study is developing and testing CIRC technologies using heart imaging. You may be able to join if you’re an adult with cardiovascular (heart) disease and can safely have the MRI scans.
Cleveland, OhioAges 18 years+ - NCT05670132Recruiting
Heart and brain rehab for youth with congenital heart disease
This trial tests a combined heart and brain rehabilitation program for young people with moderate to complex congenital heart disease. The goal is to improve both heart health and thinking skills, such as memory and attention.
BrusselsAges 8–25 - NCT05640271RecruitingPhase 2
Tocilizumab for acute chest syndrome in sickle cell
This trial studies tocilizumab (a medicine that calms inflammation) to treat acute chest syndrome in people with sickle cell disease. It may help improve symptoms and recovery by targeting key immune signals involved in this complication.
Chicago, IllinoisAges 12 years+ - NCT05391061Recruiting
Cibinqo tablet study for moderate-to-severe atopic dermatitis
This study looks at Cibinqo (an oral medicine) in people with moderate-to-severe atopic dermatitis (eczema) who are already going to start it under their clinician’s standard care plan. It may help doctors learn about how the medicine works and fits into real-world treatment.
SeoulAges 12 years+ - NCT05630794RecruitingPhase 1
Safety study of ONC201 for preventing colon polyps
This trial tests a drug called ONC201 to see if it can safely help prevent colon polyps from coming back in people at high risk. You will take the drug for about 12 weeks and have a second colonoscopy to check results.
Ann Arbor, MichiganAges 18 years+ - NCT05610787Enrolling by invitation
Testing a device that helps move an EXCOR pediatric heart pump
This trial studies an “active driving” system that controls the EXCOR pediatric heart pump. It’s meant for children who need a heart pump as a bridge to heart transplantation, to help the pump work more safely and effectively.
Los Angeles, CaliforniaAges Up to 21 years - NCT05594992Enrolling by invitationPhase 3
Study extension of JR-141 for long-term Hunter syndrome safety
This is a follow-up study for people who already took JR-141 in an earlier trial for Hunter syndrome (MPS II). It checks how well the treatment works over the long term and monitors long-term safety.
Oakland, CaliforniaAges Any age - NCT05611801RecruitingPhase 3
Study medicine for children with hemophilia A or B
This trial tests a study medicine (marstacimab) for children with severe hemophilia A or B, to see if it can help prevent or reduce bleeding episodes. It may be an option for children who do not have certain other health conditions.
Salt Lake City, UtahAges 1–17 - NCT05619900Recruiting
Register people with lysosomal storage diseases
This study is a registry that collects information from people diagnosed with lysosomal storage diseases. It helps researchers better understand these conditions and support future studies.
San Francisco, CaliforniaAges Up to 64 years - NCT05628948Recruiting
Donate blood for a heart and metabolism research biobank
This study builds a “biobank,” which is a collection of blood and related samples, to support future research on heart and metabolic (sugar/body-fat) conditions. It may help researchers better understand these diseases and improve future prevention and treatments.
Cleveland, OhioAges 18 years+ - NCT05614219Recruiting
Check if you have high cholesterol from genes
This trial focuses on people referred to a cholesterol (lipid) clinic to help identify inherited high cholesterol. It tests an “interpretive comment” approach to nudge detection—meaning it may help clinicians recognize who is most likely to have familial hypercholesterolemia.
Odense, FunenAges 18 years+ - NCT05596539Recruiting
Study of adults with low alkaline phosphatase
This is a long-term observational study (not a drug trial) that follows adults with signs of hypophosphatasia, a condition linked to very low alkaline phosphatase levels and sometimes a gene change. It aims to better understand the condition over time and how symptoms look and progress.
Bordeaux, FranceAges 18 years+ - NCT05587439Recruiting
Study of inherited genetic risk in lung and related cancers
This study looks for inherited (family-passed) genetic changes that may raise the risk of lung cancer and related thoracic cancers. It may help people and families understand their genetic risk by collecting health information and sometimes specimens from patients and relatives.
Boston, MassachusettsAges 18 years+ - NCT05586243Recruiting
MRI lab measurements in adults with type 3 Gaucher disease
This study looks at MRI-based lab measurements (similar to a special type of scan) to find markers that reflect health in people with type 3 Gaucher disease. It may help researchers track the disease over time and improve future treatments.
Minneapolis, MinnesotaAges 18–80 - NCT05554835Recruiting
Mitochondrial disease registry and history study
This study collects information about people who have a suspected or confirmed mitochondrial disease. It aims to better understand how the disease looks over time, which can help future treatments.
InnsbruckAges Any age - NCT05583721RecruitingPhase 2
PET scan study of heart filling and blood flow in sickle cell
This study uses a PET scan to look for links between abnormal heart “filling” problems and how well blood reaches the heart muscle in people with sickle cell disease. The results may help explain early heart changes in sickle cell and guide future care.
Memphis, TennesseeAges 18–21 - NCT05577754RecruitingPhase 2
Trial tests alpelisib for MCAP with PIK3CA mutations
This Phase 2 study tests alpelisib in children and adults with MCAP, a condition caused by a specific PIK3CA gene mutation. The goal is to see if the treatment is effective and safe, while carefully monitoring blood sugar and organ function.
AmiensAges 2–40 - NCT05589714Recruiting
Study your rare eye gene and track retinal disease over time
This study builds a registry and tracks the natural history of rare retinal dystrophies while also testing people for disease-causing gene variants. It may help researchers better understand what causes retinal degeneration and how it progresses.
Little Rock, ArkansasAges 4 years+ - NCT05562778Recruiting
Chatbot helps you complete hereditary cancer genetic risk testing
This study tests whether a chatbot can help people complete hereditary cancer genetic risk assessment before a gynecology new-patient visit. It may help you understand and organize next steps for genetic testing, if needed.
Brooklyn, New YorkAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,767 recruiting medical genetics studies from the U.S. registry right now, out of 5,497 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.