Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,756 recruiting studies in this area right now.
By phase
- Not applicable2,677
- Phase 2277
- Phase 1238
- Phase 3210
- Phase 1/Phase 2208
- Phase 497
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis125
- Congenital Heart Disease84
- Cystic Fibrosis76
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- Duchenne Muscular Dystrophy37
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)28
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
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
- Massachusetts General Hospital22
Where studies are running
- California325
- Maryland161
- Alabama133
- Massachusetts107
- Arizona86
- New York85
- Texas70
- Minnesota68
- Pennsylvania62
- Florida59
Recruiting studies3,756 total
- NCT05802836Recruiting
Tracking an antibody response in severe hemophilia A on emicizumab
This trial studies how your body’s anti-factor VIII antibodies change while you are treated with emicizumab for severe hemophilia A. The goal is to better understand the immune response during treatment and whether it relates to how well therapy works.
Frankfurt am Main, HesseAges Any age - NCT05939232Recruiting
Registry for X-linked adrenal and brain fat disease
This study collects health information and test results from people with X-linked adrenoleukodystrophy (X-ALD) and some genetic carriers. It helps researchers better understand the condition and how it varies, which can guide future care and studies.
BeijingAges 6–70 - NCT05508009RecruitingPhase 1/Phase 2
Kidney transplant with donor-matched stem cell treatment
This early-phase trial tests a stem cell transplant from a donor who is an extremely close match, given to people who are about to receive a kidney transplant from the same donor. The goal is to improve how well the new kidney works by resetting the immune system to better accept the transplant.
Palo Alto, CaliforniaAges 1–30 - NCT05991336Recruiting
Growth and development after gene therapy for beta-thalassemia in children
This study looks at how children with transfusion-dependent beta-thalassemia grow and develop after gene therapy. It compares children who have had gene therapy with those who have not, and also with healthy children of the same age and gender.
Tianjin, Tianjin MunicipalityAges 3–14 - NCT05534672RecruitingPhase 3
Rapamycin for drug-resistant seizures in tuberous sclerosis
This trial tests whether rapamycin (compared with a placebo) can reduce seizures caused by tuberous sclerosis complex (TSC) that have not been controlled by usual medicines. If you qualify, you may be helping doctors find a safer and more effective option for seizure control.
LodzAges 3 months–50 years - NCT05996211Recruiting
Swiss Study on Brain Development in Children with Heart Defects
This study follows children with severe heart problems born recently to see how their brain development progresses. It helps doctors understand what support these children might need as they grow.
BernAges 1 week–1 month - NCT03327779Recruiting
Bleeding disorders registry for blood-clotting conditions
This study is a registry that collects information about people with bleeding disorders like hemophilia A or B and von Willebrand disease. The goal is to better understand these conditions and improve care across participating treatment centers.
Montreal, QuebecAges Any age - NCT05865119Recruiting
Best treatment approach for a certain heart wall defect
This study looks at the best treatment plan for people with a specific type of hole in the heart wall that affects the right side of the heart. It may help doctors choose an approach based on how well it works for patients who need treatment.
BordeauxAges 12 years+ - NCT05373771Recruiting
Care plan for sickle cell pain crises in the ER
This trial studies an approach to improve care during emergency room visits for uncomplicated sickle cell pain crises. It may help by guiding how pain is treated in the ER and tracking outcomes for people with sickle cell disease.
Milwaukee, WisconsinAges Up to 18 years - NCT01885767Recruiting
Neurofibromatosis registry for NF1, NF2, and Schwannomatosis
This trial is a patient registry portal for people diagnosed with neurofibromatosis types NF1, NF2, or schwannomatosis. By joining, you help researchers collect real-world information that may guide future studies and care.
New York, New YorkAges Any age - NCT06020625Recruiting
Genetic testing for advanced cancers
This trial investigates genetic testing (mutational profiling) in people with various advanced cancers. It aims to understand how these tests can guide more personalized treatment decisions.
RomeAges 18 years+ - NCT05774288Recruiting
Testing a device to close a heart opening called PFO
This trial studies whether a Cera™ device is safe and effective for closing a patent foramen ovale (PFO), a small hole in the heart. It is for adults whose PFO is linked to certain types of stroke or ongoing clot-related events.
Beijing, Beijing MunicipalityAges 18–60 - NCT04463316Recruiting
Clinic study for people with rare genetic conditions
This study is for people who have a rare syndrome or rare congenital condition and are seen at a rare-disease clinic. It aims to better understand these conditions and how care works in a team setting, which may help guide future treatment decisions.
Rotterdam, South HollandAges 18 years+ - NCT00230620Recruiting
Study of inherited bleeding disorder genes in HHT families
This study looks at DNA (genetic material) in families affected by hereditary hemorrhagic telangiectasia (HHT). It aims to understand the genetic basis of HHT and why it runs in families.
LondonAges Any age - NCT00041600Recruiting
Brain Development and Genetic Study for Family Members
This research study investigates how genetic factors affect brain development and function in families where members have brain malformations, intellectual disability, or autism. Researchers hope to identify genetic causes that could lead to better understanding and future treatments.
Boston, MassachusettsAges Any age - NCT05961748Recruiting
Brain and heart illness registry for adults in China
This study is a registry that collects health information from adults who have certain new heart and/or brain conditions. It may help researchers understand how these problems occur together and improve future care planning.
Beijing, Beijing MunicipalityAges 18 years+ - NCT00230685Recruiting
Review of case notes for people with HHT
This study reviews past medical records (case notes) from people with hereditary hemorrhagic telangiectasia (HHT). It helps researchers understand patterns of care and outcomes, without requiring new treatment for you.
LondonAges Any age - NCT04310098Recruiting
CADASIL registry for confirmed patients and mutation carriers
This study builds a group “registry” of people affected by CADASIL (a genetic brain blood-vessel condition) and people who carry the NOTCH3 mutation, even if they have no symptoms. It helps researchers learn more about the condition over time and compare experiences between patients, carriers, and healthy relatives or controls.
Fuzhou, FujianAges 18–85 - NCT05408715Recruiting
Natural history study of growth in children with type II collagen disorders
This study follows children with certain inherited “type II collagen” conditions that cause short height, to better understand how growth changes over time. It does not test a new treatment; it mainly tracks health and growth so doctors can learn what to expect.
ParisAges Up to 12 years - NCT05767762Recruiting
Tests whether leg muscle patterns predict treatment outcome in clubfoot
This study looks at how certain leg muscles move to see if that can predict how well an Achilles tenotomy (a small procedure to release tight tendon) works for children with idiopathic clubfoot. It may help doctors choose the best timing and approach for treatment.
NiceAges birth–1 year - NCT02009345Recruiting
Study for inherited high cholesterol in families
This trial focuses on people with familial hypercholesterolemia (FH), an inherited condition that causes very high cholesterol. It aims to better understand and manage severe cholesterol problems that raise heart risk, especially in families.
Montreal, QuebecAges Any age - NCT06065852Recruiting
National registry for rare kidney diseases
This study creates a registry to collect health information from people with rare kidney diseases. It aims to improve understanding and future treatments by tracking patient experiences.
Bristol, South WestAges Any age - NCT06076200Recruiting
How Piperacillin/Tazobactam works in pregnant women and newborns
This study looks at how the antibiotic Piperacillin/Tazobactam moves through the body of pregnant women and their newborns. It may help doctors decide the best dose to prevent infections in babies at risk.
JinanAges 18 years+ - NCT05604846Recruiting
Probiotic drops for very preterm babies in Scandinavia
This trial studies whether giving probiotic supplements to extremely preterm newborns helps improve health outcomes. It’s meant for babies born very early, and the results could help guide safer early nutrition and care.
Solna, Stockholm CountyAges 5 months–6 months
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,756 recruiting medical genetics studies from the U.S. registry right now, out of 5,439 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.