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
- NCT04234971RecruitingPhase 4
Compare costs of bone grafting for cleft jaw repair
This study looks at whether alveolar bone graft surgery is cost-effective for people with cleft lip and palate. It may help clinics choose the most practical approach for the best outcomes while managing overall costs.
Houston, TexasAges 6–15 - NCT04240522Recruiting
Long-term study of eczema and related allergies
This observational study follows people with eczema (atopic dermatitis) and sometimes related allergies over time, even if they keep their usual medical treatments. It may help researchers better understand how these conditions change and what factors relate to symptoms.
Zurich, Canton of ZurichAges 1–85 - NCT04227678Recruiting
Study of how fat is handled after eating in rare LPL deficiency
This study looks at how your body processes fatty acids after meals in people with lipoprotein lipase deficiency (a rare genetic condition). It also compares results to people without the condition, which may help researchers understand metabolism and guide future care.
Sherbrooke, QuebecAges 18–75 - NCT04199000Recruiting
Study for congenital glycosylation disorders and NGLY1 deficiency
This trial is for people who have a confirmed genetic condition related to how the body builds certain sugar-like structures (CDG) or NGLY1 deficiency. It aims to better understand these conditions through clinical and basic science research, which may help improve future care.
San Diego, CaliforniaAges Any age - NCT04157049Recruiting
Alpha-1 research registry for diagnosed people and carriers
This registry study enrolls people with Alpha-1 Antitrypsin Deficiency or certain genetic “carriers” to help researchers learn more about the condition. If you join, you may be asked to share health information over time.
Coral Gables, FloridaAges Any age - NCT04194619Recruiting
Study of pregnancy safety in women with rare blood-vessel diseases
This study looks at pregnancy and the early period after birth in women with rare diseases that affect blood vessels. It may help doctors understand risks and improve care for future pregnancies.
AngersAges 18–45 - NCT04170244Recruiting
Skin microbiome study in atopic dermatitis and psoriasis
This study looks at the skin’s germs (“microbiome”) in people with atopic dermatitis (eczema) or psoriasis. It may help researchers better understand what’s going on on the skin and how that might relate to disease severity.
Rochester, New YorkAges 13 years+ - NCT04208529Enrolling by invitationPhase 3
Long-term follow-up after receiving CTX001 infusion
This study follows people for a long time after they received CTX001 in an earlier (parent) study. It helps researchers learn about long-term safety and outcomes of the treatment.
Palo Alto, CaliforniaAges 2 years+ - NCT04159103RecruitingPhase 1/Phase 2
mRNA treatment for propionic acidemia, tested in a study
This trial tests an mRNA medicine (mRNA-3927) in people with propionic acidemia (PA). It aims to see whether this treatment is safe and can help the body when PA is confirmed by genetic testing.
Los Angeles, CaliforniaAges Any age - NCT04038502RecruitingPhase 2
Comparing carboplatin and olaparib for prostate cancer with BRCA gene changes
This study compares two treatments for prostate cancer that has spread and has specific gene changes (BRCA or related genes). It aims to see which treatment works better for people whose cancer has stopped responding to other hormone therapies.
West Los Angeles, CaliforniaAges 18 years+ - NCT04074135RecruitingPhase 2
Study of pancreatic tumors in people with VHL
This trial studies the natural course and management of pancreatic neuroendocrine tumors in people with von Hippel–Lindau (VHL) disease. It may help doctors better predict how these pancreatic findings change over time and how to manage them.
Bethesda, MarylandAges 12 years+ - NCT04031508Enrolling by invitationPhase 2
Omega-3 in an IV for newborns with breathing circulation problems
This trial tests whether giving an omega-3 fat medicine through an IV (along with standard care) improves breathing and blood-flow problems in newborns with congenital diaphragmatic hernia and persistent pulmonary hypertension. It may help reduce strain on the lungs and heart by targeting inflammation and blood-vessel changes.
Mexico City, Mexico CityAges 1 hour–2 weeks - NCT04064060RecruitingPhase 3
Long-term safety follow-up for luspatercept study participants
This trial studies the long-term safety of luspatercept (ACE-536) in people who already took part in an earlier luspatercept study. It mainly helps doctors better understand ongoing side effects and overall safety over time.
Los Angeles, CaliforniaAges 18 years+ - NCT04143724RecruitingPhase 2
Luspatercept for children with beta-thalassemia
This study tests a medicine called luspatercept to see if it safely helps children with beta-thalassemia need fewer blood transfusions or keep their hemoglobin levels stable. It is for children aged 6 to 17 who either get regular transfusions or have low hemoglobin and few transfusions.
Los Angeles, CaliforniaAges 6–17 - NCT04055818RecruitingPhase 1
Testing three medicines for high-risk sickle cell disease
This Phase 1 study tests whether nicotinamide, oral tetrahydrouridine, and decitabine can help people with high-risk sickle cell disease. It is mainly a safety-and-dosing study, but it also looks for signs the medicines may improve disease-related problems.
Chicago, IllinoisAges 18 years+ - NCT03373968RecruitingPhase 2/Phase 3
Long-term study of givinostat safety in Duchenne muscular dystrophy
This trial looks at how safely givinostat works over a longer time in people with Duchenne muscular dystrophy (DMD). It mainly checks long-term side effects and tolerability, especially in a specific subgroup of muscle fat levels.
Sacramento, CaliforniaAges 7 years+ - NCT04117360Recruiting
Speech therapy study for people after jaw alignment surgery
This study looks at how well people can make specific speech sounds before and after jaw alignment treatment. It may help researchers understand whether speech patterns improve with treatment in people with certain bite differences.
Chapel Hill, North CarolinaAges 15–40 - NCT04049084Enrolling by invitation
Follow-up study for people treated with gene therapy for ADA-SCID
This is a follow-up (no new treatment) study for people who previously received a gene therapy made from their own cells for ADA-SCID. It mainly tracks long-term safety and whether a marker showing the gene change can still be found.
Los Angeles, CaliforniaAges Any age - NCT04119908Recruiting
Test video microscopy to predict bleeding risk
This study uses special video imaging to try to predict when bleeding may happen in certain inherited bleeding disorders. It may help doctors better anticipate bleeding and guide safer care.
Lille, NordAges 18 years+ - NCT04039061Recruiting
Study registry for people with ADPKD
This trial is a patient registry that collects information from people who have—or might have—autosomal dominant polycystic kidney disease (ADPKD). It may help researchers better understand the condition and improve future studies.
Kansas City, MissouriAges Any age - NCT04093986Recruiting
Using past pregnancy records from women with sickle cell
This study looks back at past pregnancy and breastfeeding experiences in women with sickle cell disease who took hydroxyurea. It aims to better understand how hydroxyurea exposure may affect pregnancy and baby outcomes.
Cincinnati, OhioAges Any age - NCT04041713RecruitingPhase 2
Antioxidant drink trial for children with Rett syndrome
This Phase 2 trial studies whether an antioxidant “cocktail” helps children and teens with Rett syndrome compared with a placebo (inactive drink). If you join, you’ll get study assessments and blood tests to see if the treatment is safe and helpful.
Toronto, OntarioAges 2–21 - NCT04104464Recruiting
Patient reports after treatment for vascular malformations
This study looks at how patients feel after a procedure used to treat vascular malformations (abnormal blood vessel growth). You may be asked to complete questionnaires about symptoms and quality of life before and after treatment.
Baltimore, MarylandAges birth–100 years - NCT04111692Recruiting
Watching foam treatment for cysts in autosomal polycystic disease
This study follows adults with inherited kidney and/or liver cysts that are causing symptoms to see how a foam sclerotherapy procedure may help and what outcomes happen over about a year. You may be eligible if you have a few sizable, specific-type cysts and can safely attend follow-up visits.
Rochester, MinnesotaAges 18–100
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.