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
- NCT01962415RecruitingPhase 2
Reduced-intensity stem cell transplant for non-cancer disorders
This trial tests whether a gentler (reduced-intensity) conditioning treatment before a stem cell transplant works for non-cancer diseases. It uses specific donor stem cell matches and checks heart, lung, liver, and kidney function to help lower transplant stress while still aiming for benefit.
Pittsburgh, PennsylvaniaAges 2 months–55 years - NCT00078078Recruiting
Understanding Methylmalonic Acidemia and Cobalamin Disorders
This research study follows patients with methylmalonic acidemia (a rare metabolic disorder affecting how the body breaks down certain proteins) or cobalamin (vitamin B12) disorders to better understand how these conditions develop and progress over time. Researchers will collect medical information, blood samples, and eye exams to help improve future treatments.
Washington D.C., District of ColumbiaAges 1 month–115 years - NCT00358943Recruiting
Gaucher disease registry and pregnancy tracking study
This study creates a large, long-term record of people with Gaucher disease and details about pregnancy outcomes. It helps researchers better understand Gaucher over a person’s life and during pregnancy.
Phoenix, ArizonaAges Any age - NCT02042326RecruitingPhase 2
Sirolimus trial for severe arteriovenous malformations
This trial studies whether sirolimus (Rapamune®) can reduce problems from severe arteriovenous malformations (tangled blood vessel connections). It may help shrink the abnormal vessels or improve symptoms, by testing the medicine in people with certain AVM types.
BrusselsAges 2 years+ - NCT01581424Recruiting
Study how kidney findings change in Fabry disease
This study looks at the natural course of Fabry disease in the kidneys and how different kidney test results relate to each other. It may help doctors better understand kidney progression and treatment outcomes, including for people who have or have not had enzyme replacement therapy.
Minneapolis, MinnesotaAges 1–75 - NCT01496625Recruiting
Biobank study for retinal diseases and comparison samples
This study collects and stores blood and eye-related medical information to help researchers better understand retinal diseases, including age-related macular degeneration and diabetic retinopathy. Your samples may also be used to compare people with retinal disease to people without it.
Bethesda, MarylandAges 2–120 - NCT00943514Recruiting
Study of bronchiectasis and why infections keep coming back
This study follows children (age 5+) and adults with bronchiectasis or ongoing/repeated lung infections to learn what makes infections more likely. It mainly looks at non–cystic fibrosis causes, but may include some related conditions to compare differences.
Bethesda, MarylandAges 5–100 - NCT00196742Recruiting
Fabry disease registry and pregnancy follow-up
This study collects health information from people with Fabry disease and specifically from pregnant people with Fabry disease. It helps researchers better understand the condition and how pregnancy affects health, using information you already experience in routine care.
Birmingham, AlabamaAges Any age - NCT02000089RecruitingPhase 3
Pancreas screening study for people at high cancer risk
This Phase 3 study tests a structured plan for checking the pancreas early in people with a higher-than-usual risk of pancreatic cancer. The goal is to find changes sooner, when treatment may be easier.
New Haven, ConnecticutAges 18 years+ - NCT00912041Recruiting
Test of a brain-to-computer device for quadriplegia
This study tests whether a tiny brain computer interface can help people with quadriplegia (loss of movement in all four limbs) communicate or control technology. It’s mainly a feasibility study, meaning the goal is to see if the device can work safely and reliably in real life.
Sacramento, CaliforniaAges 18–80 - NCT01793168Recruiting
Rare disease registry and history study
This study keeps a registry (a structured list) of people with rare diseases and may also track how the condition changes over time. It can help researchers better understand rare illnesses and find gaps in care, which may improve future treatments.
Sioux Falls, South DakotaAges Any age - 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 - NCT00345553Recruiting
Study for children with biliary atresia
This study enrolls children and young adults with biliary atresia (a condition where bile can’t flow properly from the liver) to learn from their care and outcomes over scheduled visits. It may help researchers understand the disease better and improve future treatment.
Los Angeles, CaliforniaAges 6 months–20 years - NCT01243931Recruiting
Eye scan guided laser surgery for surface cornea scars
This study tests a laser procedure guided by an eye scan to improve vision caused by surface (front) cornea cloudiness or irregularities. It may help some people whose vision problem is mainly in the outer cornea and can be safely treated without reaching deep tissue.
Portland, OregonAges 18 years+ - NCT01019148Recruiting
Study of people with recessive dystrophic epidermolysis bullosa
This study looks at the medical features and needs of people who have recessive dystrophic epidermolysis bullosa (RDEB). It may help doctors better understand the condition and plan better care.
Stanford, CaliforniaAges Any age - NCT01484678Recruiting
MRI and body biomarkers study for muscular dystrophy
This study uses MRI scans and blood or other biomarkers to better understand muscular dystrophy in people with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). It may help researchers track disease changes and identify measurable markers over time.
Gainesville, FloridaAges 5–62 - NCT01852448Recruiting
Study genes affecting insulin in people with cystic fibrosis
This study looks at how genes may affect insulin and “incretin” hormones in people with cystic fibrosis. It may help researchers understand why some people develop blood-sugar problems and how to predict or prevent them.
Philadelphia, PennsylvaniaAges 2 years+ - NCT02021604RecruitingPhase 1
Fluorodopa scan for congenital hyperinsulinism and insulinoma
This Phase 1 study tests a special imaging medicine (fluorodopa F 18) to help doctors better understand congenital hyperinsulinism (HI) patterns in the body. It may help guide treatment decisions to prevent dangerous low blood sugar and protect brain function.
Fort Worth, TexasAges Up to 18 years - NCT00542230Recruiting
Blood sample study for sickle cell trait and controls
This study collects blood samples to learn more about sickle cell-related genetics and biology. You might benefit indirectly by helping researchers understand the condition, even though this is laboratory research rather than a medication trial.
Bethesda, MarylandAges 18–100 - NCT00500123Recruiting
Alpha-1 genetic and blood testing for people at risk
This study checks whether doing alpha-1 screening (genetic test and a blood level test) can help identify alpha-1 antitrypsin deficiency in people at risk. It may be useful if you have symptoms or a family history, but you haven’t had qualifying testing yet.
Gainesville, FloridaAges Any age - NCT01929356Recruiting
Breathing therapy test for primary ciliary dyskinesia
This study looks at how chest physiotherapy affects lung function in people with primary ciliary dyskinesia (a lifelong condition affecting mucus movement in the lungs). It may help care teams understand which breathing therapies work best and how your lungs respond.
LeuvenAges 6–50 - NCT00567073Recruiting
Register pregnant people with Pompe disease for pregnancy data
This study keeps a special record of pregnancies in people with Pompe disease to learn more about pregnancy outcomes and newborn information. It does not test a drug by itself—it collects health information to improve future care.
Phoenix, ArizonaAges Any age - NCT00598351Recruiting
Study tracks changes in NF2 using repeated brain scans
This study follows people with neurofibromatosis type 2 (NF2) over time to learn how the condition changes, using repeat MRI scans. The information may help researchers understand disease patterns and improve future treatments.
Bethesda, MarylandAges 8–75 - NCT00588562Recruiting
Registry for inherited rare kidney stone disorders
This registry collects information from people with certain inherited rare kidney stone conditions. It helps researchers learn about the conditions and supports future studies that may improve care.
Rochester, MinnesotaAges birth–100 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.