Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,858 recruiting studies in this area right now.
By phase
- Not applicable2,772
- Phase 2282
- Phase 1235
- Phase 3215
- Phase 1/Phase 2204
- Phase 497
- Phase 2/Phase 353
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis129
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome54
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease38
- Hemophilia A38
- Cystic Fibrosis (CF)37
- Cardiac Amyloidosis35
- Huntington Disease32
- Lynch Syndrome32
- Heart Failure31
- Retinitis Pigmentosa31
- Bronchopulmonary Dysplasia30
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)27
Leading sponsors
- Assistance Publique - Hôpitaux de Paris62
- Boston Children's Hospital42
- National Institute of Allergy and Infectious Diseases (NIAID)38
- Mayo Clinic37
- Children's Hospital Medical Center, Cincinnati33
- Hospices Civils de Lyon32
- IRCCS Azienda Ospedaliero-Universitaria di Bologna32
- Riphah International University26
- Massachusetts General Hospital23
- National Cancer Institute (NCI)23
Where studies are running
- California340
- Maryland161
- Alabama132
- Massachusetts116
- New York84
- Arizona79
- Texas73
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT00605878Recruiting
Skin microbiome study in healthy people and eczema patients
This study looks at the types of germs on the skin (skin microbiome) in healthy people and people with skin conditions, including atopic dermatitis (eczema). Researchers collect skin samples to understand how skin germs differ and how that may relate to skin health.
Bethesda, MarylandAges 2–100 - NCT00668187Recruiting
Study of the natural history of gangliosidosis
This study follows people with gangliosidosis to better understand how the condition changes over time. You may be asked to complete thinking/behavior tests and, if you have late-onset disease, get a head MRI (a painless scan) to help researchers track changes in the brain.
Minneapolis, MinnesotaAges Any age - NCT00874783Recruiting
Testing nerve-cell growth from donated body cells
This trial uses donated body cells or small hair samples from people with neurological diseases (and healthy donors) to try to grow “nerve-like” cells for research. It may help scientists learn how to better study and treat different neurological conditions.
Jerusalem, IsraelAges 18 years+ - NCT01851694Recruiting
Study incretin hormone response in adults with cystic fibrosis
This study tests how the body’s “incretin” hormones affect insulin (sugar control) in adults with cystic fibrosis and certain blood sugar patterns. It may help explain what drives diabetes risk in cystic fibrosis and how the body responds to these hormone signals.
Philadelphia, PennsylvaniaAges 18 years+ - NCT01137643Recruiting
Sharing blood and tissue samples for blood cancer research
This trial collects tissue, blood, and other body fluid samples from people with blood-related cancers. The goal is to help researchers study these diseases by building a source of samples for future testing.
Chapel Hill, North CarolinaAges 18–120 - NCT01873235Recruiting
Study for adults with confirmed polycystic kidney disease
This study enrolls adults with autosomal dominant polycystic kidney disease (ADPKD) to better understand the disease and its related changes in the body. It may help researchers find improved ways to track the condition and support future treatments.
Baltimore, MarylandAges 18 years+ - NCT01851642Recruiting
Study how lung disease affects white blood cells
This study looks at how lung disease changes a type of blood cell called white blood cells. It may help researchers understand what’s happening in the lungs and how to better monitor or treat lung problems.
Gainesville, FloridaAges 18 years+ - NCT00920972RecruitingPhase 1/Phase 2
Bone marrow transplant prep for children with non-cancer blood disorders
This early-stage study tests a specific chemotherapy “conditioning” regimen to prepare the body for a bone marrow transplant in children with certain non-cancer blood or immune conditions. It may help the transplant work better, but it also carries risks from the chemotherapy and transplant process.
Phoenix, ArizonaAges Up to 20 years - NCT00929006RecruitingEarly Phase 1
Testing progesterone effects on hormone timing during sleep in teens
This early-phase study tests whether a progesterone medicine can change when “luteinizing hormone” (a puberty-related hormone) pulses during wake versus sleep. It focuses on pubertal girls with either normal or higher-than-expected testosterone levels to see how their hormone timing responds.
Charlottesville, VirginiaAges 10–17 - NCT02081768RecruitingPhase 3
Yttrium radiation liquid for cyst-like brain tumors near the pituitary
This Phase 3 trial studies a radioactive liquid called yttrium colloid (90Y) given around the time of surgery for cyst-like tumors near the pituitary gland. The goal is to see if it can improve treatment when you need an operation.
Halifax, Nova ScotiaAges 17 years+ - NCT01306019RecruitingPhase 1/Phase 2
Gene therapy for children with severe immune deficiency (XSCID)
This trial tests a one-time gene therapy approach to help children with X-linked SCID (a serious inherited immune disorder) make better immune cells. It’s for people who don’t have a fully matched sibling donor and need long-term follow-up after treatment.
Bethesda, MarylandAges 2–50 - NCT01132885Recruiting
Brain scans in children with Williams syndrome
This study uses brain testing—often MRI scans—to learn how the brains of children with Williams syndrome are different from typical development. It may help researchers better describe brain patterns and improve future care for people with Williams syndrome.
Bethesda, MarylandAges 5 years+ - NCT01193088Recruiting
Study genetics to find who modifies Charcot-Marie-Tooth (CMT)
This study looks at DNA changes in families with Charcot-Marie-Tooth (CMT), especially a known gene duplication called PMP22. It aims to understand what other genetic factors may change how CMT shows up, which could help future diagnosis and care.
Los Angeles, CaliforniaAges Any age - NCT01950624Recruiting
DS-Connect registry for people with Down syndrome
This is a study registry that collects information from people with Down syndrome (or certain forms like mosaic or partial trisomy 21) and their families. It helps researchers learn about health and needs over time and makes it easier to contact people for future studies.
Aurora, ColoradoAges Any age - NCT01245179RecruitingPhase 1
Panobinostat for adults with severe sickle cell
This early-phase study tests panobinostat, a medicine aimed at reducing sickle-cell problems, in adults with severe disease. It’s mainly looking at safety and whether it can improve blood-related issues that drive pain and complications.
Augusta, GeorgiaAges 18 years+ - NCT01347216Recruiting
COMPERA study for lung vessel pressure medicines
This study follows people with different types of high blood pressure in the lungs (pulmonary hypertension) to see how starting specific lung blood vessel medicines affects outcomes. It may help improve how clinicians choose and monitor treatment over time.
LeuvenAges 1 week+ - NCT01761981Recruiting
Registry for patients with hereditary bleeding vessel disease (HHT)
This is a patient registry that collects information about people with hereditary hemorrhagic telangiectasia (HHT). It may help doctors better understand the condition and improve care over time.
Buenos Aires, Buenos AiresAges Any age - NCT01631617RecruitingPhase 2
Atopic dermatitis treatments and how they affect skin
This Phase 2 study tests different treatments for atopic dermatitis (eczema) by looking at changes in skin health. It may help people find safer, more effective ways to control moderate to severe eczema and related skin infections.
Bethesda, MarylandAges 2–50 - NCT01574053Recruiting
Global Huntington’s disease registry for gene carriers and controls
This study builds a global record of people who carry the Huntington’s (HD) gene change and people who do not. By comparing them over time, researchers hope to better understand how HD begins and progresses.
Birmingham, AlabamaAges 18 years+ - NCT01653223Recruiting
Simvastatin to protect the heart during heart surgery
This trial looks at whether simvastatin (a cholesterol medicine) can help protect the heart during cardiac surgery. You might be invited if you’re having surgery for certain, non-complex heart conditions, but not if you have some specific related health problems.
Guangzhou, GuangdongAges 18 years+ - NCT01668186Recruiting
Study of how peroxisome disorders change over time
This study follows people with peroxisome biogenesis disorders (PBD) or closely related enzyme/protein defects to learn how symptoms and health changes over time. It may help researchers better understand the condition and plan future treatments.
Montreal, QuebecAges Any age - NCT02012699Recruiting
Cancer registry for people with or at risk of cancer
This trial collects health information and samples (a “cancer repository”) to help researchers study cancer and cancer risk. You may be able to join if you’ve had cancer before or if you’re at higher risk or have concerning findings.
Greenwood Village, ColoradoAges 19–110 - NCT02432625Recruiting
Long-term study of bone fragility in osteogenesis imperfecta
This study follows people with osteogenesis imperfecta (OI) to better understand how it affects bones and related issues over time. It may help doctors learn which features and genetic changes predict problems, and guide future care.
Phoenix, ArizonaAges Any age - NCT02852031Recruiting
Care program for newborns needing the Norwood procedure
This trial focuses on improving care for babies born with certain complex heart conditions where only one pumping chamber works. It is meant for babies (including unborn babies) who are planned to have the Norwood procedure, which is a common early surgery.
Birmingham, AlabamaAges Up to 1.3 years
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,858 recruiting medical genetics studies from the U.S. registry right now, out of 5,795 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.