Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,758 recruiting studies in this area right now.
By phase
- Not applicable2,677
- Phase 2279
- Phase 1238
- Phase 3211
- Phase 1/Phase 2208
- Phase 496
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis127
- 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
- Maryland160
- Alabama134
- Massachusetts107
- Arizona86
- New York85
- Texas70
- Minnesota68
- Pennsylvania63
- Florida58
Recruiting studies3,758 total
- NCT07875127Recruiting
Hand movement test for people with certain conditions
This study looks at how people with mild hand movement problems or Down syndrome perform a simple hand test. It may help doctors better understand and measure hand skills.
Rome, ItaliyAges 4–18 - NCT07875478Recruiting
Tracking factor X deficiency to improve patient care
This study collects health information and blood samples from people with factor X deficiency (a rare bleeding disorder) and their close family members. The goal is to learn more about how the condition progresses over time, which could lead to better treatment and management.
FlorenceAges Any age - NCT06941870RecruitingPhase 4
Prevention treatment for hemophilia A with joint swelling
This study tests a preventive treatment called efanesoctocog alfa to see if it can help people with moderate to severe hemophilia A who have joint swelling (synovial hypertrophy). It aims to reduce joint bleeding and improve joint health.
Los Angeles, CaliforniaAges 12 years+ - NCT05805007RecruitingEarly Phase 1
Gene editing treatment for retinitis pigmentosa
This study tests a gene-editing drug, ZVS203e, injected into one eye to see if it is safe and tolerable for people with retinitis pigmentosa caused by a specific genetic change in the RHO gene. It may help slow vision loss or improve vision, but the main goal is to check safety.
Beijing, Beijing MunicipalityAges 18 years+ - NCT07876349Recruiting
Genetic testing program for breast and ovarian cancer risk
This study tests a program that helps primary care doctors identify women who may benefit from genetic testing for hereditary breast and ovarian cancer. The program uses family history to guide testing and aims to make it easier for patients to get tested.
New York, New YorkAges 21–75 - NCT06985212Recruiting
Study of acid sphingomyelinase deficiency in children and adults
This study follows people with acid sphingomyelinase deficiency (ASMD) over time to learn more about how the condition changes. You won't get any new treatment, but your participation will help doctors better understand ASMD.
Paris, FranceAges 2 years+ - NCT07093255RecruitingPhase 1
Testing FLQ-101 safety in premature babies
This study tests a new medicine called FLQ-101 in very premature babies born between 25 and 27 weeks of pregnancy. The goal is to see if the medicine is safe and how it works in the body.
Austin, TexasAges 4 days–5 days - NCT03394053Recruiting
Studying the causes of primary immunodeficiency disorders
This study looks at blood samples and genetic information from people with primary immunodeficiency (a condition where the immune system doesn't work properly), their relatives, and healthy volunteers. The goal is to learn more about what causes these disorders, which could help improve future treatments.
Washington D.C., District of ColumbiaAges 1 day–90 years - NCT07262983RecruitingPhase 1
Baricitinib for Job syndrome with lupus or eczema
This study tests if baricitinib, a pill that changes how your immune system works, is safe and tolerable for people with Job syndrome who also have lupus-like disease or severe eczema. It might offer a new treatment option for these skin and immune problems.
Bethesda, MarylandAges 12–120 - NCT06703606RecruitingPhase 1
Switching from Emicizumab to Marstacimab for Severe Hemophilia A
This study tests if switching from emicizumab to a new medicine called marstacimab is safe and effective for people with severe hemophilia A. You must have been on emicizumab for at least 6 months and not have a history of blood clots or heart disease.
La Jolla, CaliforniaAges 12–74 - NCT07482787RecruitingPhase 3
Study of SD-101 for epidermolysis bullosa in children
This trial tests a new medicine called SD-101 for children with epidermolysis bullosa (EB), a condition that causes fragile skin and blistering. It aims to see if SD-101 can help heal wounds and improve quality of life.
Rancho Santa Margarita, CaliforniaAges 4 weeks–12 years - NCT00029965Recruiting
Natural history of inherited metabolic storage disorders
This study follows people with certain inherited metabolic conditions (like GM1 or GM2 gangliosidosis, sialidosis, or galactosialidosis) to learn more about how these diseases progress over time. Participating may help researchers understand the conditions better, which could improve future care.
Bethesda, MarylandAges 1 day–100 years - NCT07503444RecruitingPhase 3
Fenfluramine for Rett syndrome symptoms
This study tests whether fenfluramine, a medication already used for seizures, can help people with Rett syndrome. It aims to see if it improves daily life and reduces symptoms.
Little Rock, ArkansasAges 5–35 - NCT07386743RecruitingPhase 3
New injection for moderate-to-severe eczema
This study tests a new injection called GS101 compared to an existing treatment (Dupixent) for people with moderate-to-severe atopic dermatitis (eczema). If you join, you may receive either the new drug or the standard treatment, and researchers will track how well it controls your symptoms.
Shenyang, LiaoningAges 18–75 - NCT07754786RecruitingPhase 3
Comparing a new eczema medicine with dupilumab
This study tests whether a new biologic medicine (IBI3027) works as well as an approved medicine (dupilumab) for treating moderate-to-severe eczema. If you join, you may receive one of the two treatments, and researchers will compare their effects on your skin and itching.
Guangzhou, GuangdongAges 18–75 - NCT06595940Recruiting
Genetic study of unusual disease in non-US populations
This study looks for genetic causes of rare or unusual disease patterns in people living outside the United States. If you or a family member has a condition that seems to run in the family, started very early, or has an unusual form, you may be asked to provide a DNA sample and medical history.
MokaAges 2–100 - NCT07600736RecruitingPhase 2
Safety study of ABS-1230 for children with KCNT1 epilepsy
This trial tests a new drug called ABS-1230 in children and young adults with KCNT1-related epilepsy, a rare genetic form of epilepsy. The study will check if the drug is safe and if it helps reduce seizures.
Hackensack, New JerseyAges 1 month–21 years - NCT06869499Recruiting
Screening for a rare enzyme disease in patients with lung scarring
This study checks if people with certain lung changes (called interstitial lung disease) might have a rare enzyme deficiency that can cause lung and other organ problems. Finding this could lead to better treatment options.
ParisAges 15–60 - NCT07639853Enrolling by invitation
Doctor feedback survey on Concerto Versa coils
This study gathers feedback from doctors who use Concerto Versa detachable coils (small metal devices that help treat brain aneurysms). The survey helps improve how these coils work and are used.
Piscataway, New JerseyAges 22 years+ - NCT07765888RecruitingPhase 3
Tilrekimig for moderate-to-severe eczema
This study tests an investigational medicine called Tilrekimig for people with moderate-to-severe eczema (atopic dermatitis) that hasn't improved with standard treatments. It aims to see if the medicine can reduce symptoms and improve quality of life.
Birmingham, AlabamaAges 12 years+ - NCT01500447Recruiting
Study of inherited causes of low puberty hormones
This study looks at families to understand inherited (genetic or family-related) reasons some people have delayed puberty or develop puberty abnormally. It may help doctors better figure out the cause of low sex hormone levels and related hormone problems.
Bethesda, MarylandAges 1 month–120 years - NCT07643896Recruiting
Blood test for pregnancy risk assessment using fetal cells
This study tests a new blood test that looks for fetal cells in your bloodstream to check your baby's health during pregnancy. The test is non-invasive—just a regular blood draw—and aims to help identify pregnancy risks earlier than traditional methods.
Phoenix, ArizonaAges Any age - NCT06975865RecruitingPhase 3
Rilzabrutinib for sickle-cell disease pain episodes
This study tests an oral medicine called rilzabrutinib to see if it can reduce painful episodes in people with sickle-cell disease. It may be an option if you have regular pain crises and are looking for a new treatment.
Birmingham, AlabamaAges 10–65 - NCT05588167Recruiting
Niemann-Pick type C patient database and genetic data study
This study collects health information and genetic samples from people diagnosed with Niemann-Pick disease type C. The goal is to build a large database that can help researchers better understand the condition and improve future care.
Bethesda, MarylandAges 3 months+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,758 recruiting medical genetics studies from the U.S. registry right now, out of 5,416 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.