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
- NCT05687292Recruiting
Decision tool to shorten breathing machine time in children
This study tests whether a computer “decision support” tool can help doctors safely reduce how long a child stays on a breathing machine after heart surgery. It may help children get off mechanical ventilation sooner and recover faster.
Boston, MassachusettsAges 1 day–12 years - NCT05676099Recruiting
TSC or LAM blood and health information registry
This study sets up a database and collection of “biosamples” (like blood or other body samples) from people with tuberous sclerosis complex (TSC) or sporadic lymphangioleiomyomatosis (LAM). The goal is to better understand how these conditions change over time and support future research.
Birmingham, AlabamaAges Any age - NCT05686837Enrolling by invitation
Study of how lung bacteria spreads in people with cystic fibrosis
This trial follows people with cystic fibrosis to better understand how “nontuberculous mycobacteria” (a type of lung germ) spreads between healthcare visits and care settings. It may help improve future prevention and monitoring strategies for CF patients who have had these bacteria.
Denver, ColoradoAges 1 month–99 years - NCT05681624Recruiting
Extra oxygen during labor to support the baby
This trial studies whether giving extra oxygen to the pregnant person during labor helps the baby during “intrauterine resuscitation,” when monitoring suggests the baby needs support. It may help babies recover better while still in the womb, especially during continuous fetal monitoring.
St Louis, MissouriAges Any age - NCT05675722RecruitingPhase 1
Vaginal reconstruction implant test for women born without a vagina
This Phase 1 study tests a vaginal implant/reconstruction device for people born with a missing or closed-off vagina. The goal is to check safety and how well the implanted vaginal tissue construct works over follow-up visits.
Winston-Salem, North CarolinaAges 15–45 - NCT05704010Recruiting
Video pill camera test for Lynch syndrome
This trial studies whether a swallowable camera (video capsule endoscopy) can help look inside the small intestine for people with Lynch syndrome. It may help doctors detect problems earlier or more clearly by improving how the small bowel is checked.
Milan, LombardyAges 18 years+ - NCT05704257Recruiting
Fetal surgery study for complex gastroschisis safety
This trial tests whether a specialized fetal operation is safe and practical for babies with a serious form of gastroschisis (bowel outside the belly) and swollen bowel. You may be considered if the pregnancy is otherwise free of major related problems and the family is ready for follow-up after birth.
Houston, TexasAges 18 years+ - NCT05677880Recruiting
Study for CADASIL using MRI, blood tests, and follow-up visits
This trial studies CADASIL (a genetic blood-vessel condition in the brain) by following people over time with MRI scans, blood draws, and questionnaires. It may help researchers better understand how the condition changes and how factors like medications affect outcomes.
Los Angeles, CaliforniaAges 18 years+ - NCT03287193Recruiting
Study genes behind rare, genetic-looking illnesses
This study is trying to find the gene or body-process cause of rare diseases (or rare forms of common diseases) when the reason is not yet understood. If you qualify, you may be asked to give genetic and health information that could help doctors diagnose and understand the condition better.
DijonAges Any age - NCT05400590Recruiting
Test blood-based eye drops to help cornea healing
This study compares two types of blood-derived treatments (a growth-factor enriched plasma product versus your own serum) to see which helps corneal cells heal better in people with aniridia. It may be helpful if you need improved cornea healing, but you must meet blood-safety and eye-sample requirements.
ParisAges 18 years+ - NCT05636579RecruitingPhase 1
Testing safety of multiple EO2002 eye drops for corneal swelling
This Phase 1 study tests whether EO2002 eye drops are safe and well tolerated in people with painful corneal swelling caused by the cornea’s inner lining not working well. It focuses on safety first, but your eye symptoms and vision may be monitored to see how you respond.
Mexico City, Mexico CityAges 18 years+ - NCT05656365Recruiting
Study of genes and immunity in PFAPA and other tonsil problems
This study looks at genetic markers and immune system patterns in people with PFAPA (periodic fevers with mouth sores and throat/neck gland symptoms) or similar tonsil problems. It may help researchers understand why these conditions happen and how they might be better diagnosed or treated.
Washington D.C., District of ColumbiaAges 1 month–99 years - NCT05657405Recruiting
Study of data analytics for people with genetic conditions
This is an observational study that collects health and family history information to see how advanced data analysis can help people with genetic conditions. It may involve website forms, optional conversations, and sometimes an NIH visit, depending on your situation.
Bethesda, MarylandAges 1 day–120 years - NCT05659901Recruiting
Study tracks symptoms and test results in PLP1-confirmed PMD
This study follows children with Pelizaeus-Merzbacher disease (PMD) who have a specific genetic change (PLP1 duplication). It aims to learn which body measurements (“biomarkers”) and symptoms change over time, to better understand disease progression.
Atlanta, GeorgiaAges 6 months–17 years - NCT05669950RecruitingPhase 1/Phase 2
Study drug Lu AG13909 for congenital adrenal hyperplasia
This early study tests Lu AG13909 in people with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. It aims to see how the drug affects hormone levels and whether it is safe for different CAH hormone patterns.
Ann Arbor, MichiganAges 18–70 - NCT05658575RecruitingPhase 2/Phase 3
Tablets to treat sudden gout flare pain
This trial studies dapansutrile tablets (OLT1177) to see how well they work for people in the first 4 days of an acute gout flare. It may help reduce pain and inflammation in the specific joint where your gout is flaring.
Birmingham, AlabamaAges 18 years+ - NCT05661201RecruitingPhase 1
Testing a KRAS drug and doxorubicin for certain solid tumors
This Phase 1 study tests a drug called NEROFE together with doxorubicin in people whose tumors have a specific KRAS mutation and show ST2 in tumor tissue. It’s meant to find the safest dose and whether the treatment can shrink or control these advanced cancers.
Washington D.C., District of ColumbiaAges 18 years+ - NCT05647213RecruitingPhase 1
Skin biopsy study of stem-cell therapy for congenital heart disease
This early study takes a small skin sample to make a personalized type of heart stem cells in the future. It is testing whether this approach is safe and feasible for people with complex single-chamber congenital heart disease and advanced heart failure.
Rochester, MinnesotaAges 18–40 - NCT05664867Recruiting
Program study for hereditary breast or colon cancer counseling in clinics
This study helps clinics roll out cancer genetic counseling services for people who may have inherited cancer risk. If you may need genetic testing for hereditary breast or colon cancer, you can be interviewed about your experience with these services.
Chicago, IllinoisAges 25 years+ - NCT05641142Recruiting
Testing blood thinners in adults with inherited bleeding vessel disease
This study looks at people with Rendu-Osler (hereditary hemorrhagic telangiectasia) who have just started blood-thinning medicines. It aims to understand how antiplatelet and/or anticoagulant therapy affects safety and outcomes soon after starting.
AngersAges 18 years+ - NCT05644522Recruiting
At-home brace study for leg support and walking
This study tests an at-home wearable activity monitor and brace-related walking support for people who already use a knee-ankle-foot brace. It may help researchers understand how brace use and day-to-day movement relate to walking ability.
Chicago, IllinoisAges 18–89 - NCT05654272Recruiting
Testing CIRC imaging technology for people with heart problems
This study is developing and testing CIRC technologies using heart imaging. You may be able to join if you’re an adult with cardiovascular (heart) disease and can safely have the MRI scans.
Cleveland, OhioAges 18 years+ - NCT05637814Recruiting
Screening for critical heart defects with extra blood flow checks
This trial tests if adding blood flow measurements to standard pulse oximeter screening better detects critical congenital heart disease in fetuses and newborns. It may help identify babies who need early heart care.
Davis, CaliforniaAges birth–3 weeks - NCT05649098RecruitingEarly Phase 1
Testing dupilumab for itchy inherited genetic skin disorders
This early trial tests whether dupilumab can reduce itching in people with certain inherited (genetic) inflammatory skin conditions. It may help by calming skin inflammation that causes ongoing itch and sleep problems.
Chicago, IllinoisAges 6 months+
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.