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
- 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+ - NCT02026388Recruiting
Kidney stone DNA and tissue sample biobank study
This study collects and stores donated samples (like blood, urine, and tissue) from people with certain rare inherited kidney stone conditions. The goal is to build a resource for future research that could help improve diagnosis and treatment.
Rochester, MinnesotaAges Any age - NCT02098863Recruiting
Research program for people with sickle cell disease on hydroxyurea
This trial program studies sickle cell disease and how treatment works, especially for people who are already taking hydroxyurea at a stable, maximum tolerated dose. It may help researchers better understand treatment effects and side effects in real patients.
Peoria, IllinoisAges Any age - NCT01401998Recruiting
Study collecting information from people with ARPKD
This study looks at medical records, imaging, and genetic testing for people with autosomal recessive polycystic kidney disease (ARPKD). It may help researchers better understand the condition and how it affects the liver and kidneys.
Washington D.C., District of ColumbiaAges Up to 18 years - NCT00231400Recruiting
Pompe disease registry for people with confirmed diagnosis
This trial is a registry, meaning it collects health information from people with confirmed Pompe disease. It may help researchers better understand the disease and improve future treatments.
Birmingham, AlabamaAges Any age - 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 - 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 - 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 - NCT00254605Recruiting
Retinal photo imaging for inherited eye conditions
This study uses special pictures of the back of your eye (retinal imaging) in people with inherited retinal degeneration. It may help researchers learn how these conditions look and change over time, and it can be a way for you to receive detailed eye imaging.
San Francisco, CaliforniaAges 13 years+ - NCT00478712Recruiting
Genetic study of Hirschsprung disease and family members
This study looks at genes in people with Hirschsprung disease and in their first-degree relatives (parents, siblings, and children). It may help researchers understand why Hirschsprung disease happens and how it can vary between families.
New York, New YorkAges 1 week–100 years - 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 - NCT01192048Recruiting
Study genetics in congenital heart disease
This study looks at how genes may contribute to congenital heart disease. It may help researchers better understand causes and risk in families like yours.
Columbus, OhioAges Any age - NCT00272883Recruiting
Study genes in congenital muscle weakness
This research study looks at genes and molecules to better understand congenital myopathies (birth-related muscle weakness). It may help explain the cause of symptoms and improve future diagnoses for you and your family.
Boston, MassachusettsAges Any age - NCT00768820RecruitingPhase 4
Study brain and mental health in people with 22q11 deletion
This trial looks at how thinking and mental health (psychiatric symptoms) show up in people who have a specific chromosome deletion. It may help researchers understand patterns in this condition and improve future care.
Petah TikvaAges Any age - NCT00833599Enrolling by invitation
Scan lymph drainage and collect samples for related conditions
This study uses a special light scan after a dye is given to look at how your lymph system drains. It may also include genetic testing for people with a family history of lymph-related disorders to better understand causes.
Houston, TexasAges 3 months+ - NCT00795080Enrolling by invitation
Neck MRI study of fluid flow in spine and skull problems
This study uses special MRI scans to measure how fluid moves around the brain and spinal cord. It may help researchers better understand craniovertebral junction (CVJ) and Chiari I malformations by comparing fluid-flow patterns during neck movement.
Ages 12 years+ - 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 - NCT00950118Recruiting
Study for people with congenital diaphragmatic hernia or family history
This study is for people who have a congenital diaphragmatic hernia (a birth-related opening in the diaphragm) or whose family member has had one. The research aims to learn more about the condition using molecular (cell-level) science, which may help improve understanding and future care.
Chicago, IllinoisAges Any age - 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 - NCT00697411Recruiting
Study of Aicardi syndrome in X-linked disorders
This trial looks at people with features that suggest Aicardi syndrome, a rare condition that can affect the brain and eyes and may include seizures. Researchers want to better understand the condition and how it shows up, which may help guide care in the future.
Houston, TexasAges Any age - NCT01193647Enrolling by invitation
Study genetics that may raise rotator cuff injury risk
This study looks at genetic (inherited) factors that may make some people more likely to develop rotator cuff tears. You may be able to join if you’ve had a shoulder MRI for pain or you’re a close family member of someone with a documented tear.
Salt Lake City, UtahAges 18 years+ - 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 - NCT00061828Recruiting
Tracking Liver Disease in Newborns and Young Infants
This study follows babies under 6 months old who have early signs of liver disease (cholestasis) to better understand what causes it and how it progresses. Researchers will collect medical information over time to improve diagnosis and treatment.
Los Angeles, CaliforniaAges Up to 6 months - NCT01137825Recruiting
Older patient cancer registry for a health check
This study is a registry that collects information from older adults who may be dealing with cancer. It includes a short health and function check to help doctors understand needs and guide care, even for people who turn out not to have cancer.
Boone, North CarolinaAges 65 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.