Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,762 recruiting studies in this area right now.
By phase
- Not applicable2,682
- Phase 2280
- Phase 1239
- Phase 3209
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- 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
- Massachusetts107
- Arizona88
- New York84
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT06640998Enrolling by invitation
Matrix pro for eyebrow and neck lift
This trial tests a radiofrequency microneedling device called Matrix Pro to lift droopy eyebrows and tighten loose skin under the chin and neck. It may help if you have mild to moderate skin laxity and are willing to avoid other cosmetic treatments during the study.
Marlborough, MassachusettsAges 18–75 - NCT06636383Recruiting
A follow-up study for people with GSDIa who received DTX401
This study monitors the long-term health of people with Glycogen Storage Disease Type Ia who have already received the gene therapy DTX401, either in a previous clinical trial or after it was approved. The goal is to gather more information about their condition over time.
Orange, CaliforniaAges 2 years+ - NCT06641310Recruiting
Exercise therapy trial for people with familial adenomatous polyposis
This trial tests whether a home-based exercise program can help people with familial adenomatous polyposis (FAP) who have rectal polyps. You may qualify if you have FAP, have not had your rectum removed, have at least 5 rectal polyps larger than 2 mm, and are currently inactive.
Ann Arbor, MichiganAges 18 years+ - NCT06638463Recruiting
My Health Coach App Study
This trial tests whether the My Health Coach app can help adults with fetal alcohol spectrum disorder or prenatal alcohol exposure. It is for people who own a smartphone and can read English.
Rochester, New YorkAges 18 years+ - NCT06635902RecruitingPhase 2
Citrulline for sickle cell pain crisis
This trial tests if an intravenous medication called L-citrulline can help treat pain crises in children and young adults with sickle cell disease. Participants receive either the study drug or a placebo while in the hospital for a severe pain episode.
Washington D.C., District of ColumbiaAges 4–21 - NCT06634628RecruitingEarly Phase 1
Testing a new brain scan tracer for Huntington's disease
This trial tests a new radioactive tracer called [11C]CHDI-00491009 that may show mutant huntingtin protein in the brain using a PET scan. It aims to find out if the tracer is safe and helps see Huntington's disease changes. If you have early-stage Huntington's or are a healthy volunteer, you may be able to join.
LeuvenAges 18–64 - NCT06642662Enrolling by invitation
Finding biomarkers in children after heart surgery
This study looks at proteins in the blood that may help doctors understand how children are recovering after heart surgery. It enrolls children under age 5 having certain types of heart repairs at Boston Children's Hospital.
Boston, MassachusettsAges 2 days–5 years - NCT06630650Recruiting
Study of Congenital Myasthenic Syndrome (CMS) Over Time
This study follows people with congenital myasthenic syndrome (CMS) over time to learn more about how the condition changes and to find better ways to measure symptoms. You will not receive any treatment, but your participation helps researchers understand CMS better.
Bethesda, MarylandAges 6 months–99 years - NCT03549858Recruiting
Survey study on burdens and experiences of people with hemophilia
This study collects information from people with hemophilia about how treatments and daily life affect them. It uses your answers to improve patient-focused care and understand what challenges matter most.
Hamilton, OntarioAges Any age - NCT05723445Recruiting
Low glycemic diet test for diabetes and body changes in CF
This trial studies whether a low glycemic load (a specific way of choosing carbohydrates) improves blood sugar control and body composition in adults with cystic fibrosis–related diabetes. It may help reduce blood sugar problems and support healthier weight and body measurements.
Boston, MassachusettsAges 18–70 - NCT06625190RecruitingPhase 1/Phase 2
Half-matched transplant with zoledronic acid for resistant solid tumors
This trial tests a new approach using a special type of transplant (with cells from a half-matched family donor) plus a drug called zoledronic acid. It is for children and young adults with certain solid tumors that have not responded to standard treatments.
Gainesville, FloridaAges 6 months–25 years - NCT06628375Recruiting
Studying chemicals in the environment and hypospadias
This study tests whether certain chemicals in the environment (called endocrine disruptors) might be linked to hypospadias, a condition where a baby boy's penis opening is on the underside instead of the tip. By testing hair samples from mothers, researchers hope to find connections that could help prevent this condition in the future.
Montpellier, HéraultAges 1 month+ - NCT06627543Enrolling by invitation
Enzyme replacement therapy for heart health in Gaucher type 3
This study looks at how enzyme replacement therapy affects heart function in children with Gaucher disease type 3. It aims to see if the therapy helps keep the heart healthy.
AsyutAges Any age - NCT06623032Recruiting
Medium-chain fatty acids in MCADD patients and healthy volunteers
This trial tests how medium-chain fatty acids (a type of fat found in coconut oil) affect metabolism in people with MCADD, a genetic condition that affects fat breakdown, compared to healthy people. The results may help guide dietary advice for those with MCADD.
CopenhagenAges 18–80 - NCT06622603RecruitingPhase 4
Testing lower doses of febuxostat in well-controlled gout
This trial tests if gradually lowering the dose of the gout medication febuxostat is safe for people whose gout has been well-controlled for at least 5 years. The goal is to see if a lower dose can still keep uric acid levels in a healthy range.
Seongnam-si, Gyeonggi-doAges 19–79 - NCT06628271Recruiting
Breath-holding Spells Study for Young Children
This study looks at a common condition in young children called breath-holding spells. It aims to better understand how to manage these episodes, which can be scary but are usually harmless.
EslövAges birth–5 years - NCT06628687Recruiting
Study checking omaveloxolone health effects during pregnancy and breastfeeding
This study follows people with Friedreich's ataxia who took omaveloxolone during pregnancy or while breastfeeding, to check how the drug affected their health and their baby's health. It helps doctors understand the safety of this treatment for mothers and babies.
Morrisville, North CarolinaAges 16 years+ - NCT06627335Recruiting
Eczema creams and pregnancy outcomes study
This study looks at women who used a topical eczema cream called ruxolitinib (Opzelura) or steroid creams during pregnancy. The goal is to compare pregnancy outcomes and baby health up to one year after birth.
Morrisville, North CarolinaAges 14 years+ - NCT06617897RecruitingPhase 3
Fibrinogen concentrate to control bleeding in PMP surgery
This trial tests a medicine called fibrinogen concentrate (CSL511) to see if it helps control bleeding during a special surgery (cytoreductive surgery with HIPEC) for pseudomyxoma peritonei (PMP). The goal is to reduce the need for blood transfusions and improve safety.
BasingstokeAges 18 years+ - NCT06623890Recruiting
Long-term safety of omaveloxolone for Friedreich's ataxia
This study looks at the long-term safety of omaveloxolone (BIIB141) for people with Friedreich's ataxia. You can join if you are just starting this medicine or have been taking it for less than a year.
Los Angeles, CaliforniaAges 16 years+ - NCT06628128RecruitingPhase 3
Long-term study of JNT-517 for people with PKU
This study tests a new medicine called JNT-517 for people with phenylketonuria (PKU) over a long period. It aims to see if the drug can help manage PKU safely and effectively.
Gainesville, FloridaAges 4 years+ - NCT06628947RecruitingPhase 2
Testing KIO-301 eye injections for advanced retinitis pigmentosa
This trial tests an eye injection called KIO-301 for people with late-stage retinitis pigmentosa (a genetic eye disease that causes vision loss). The goal is to see if it can improve vision or slow further vision loss.
Sydney, New South WalesAges 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+ - NCT06606340Enrolling by invitation
Long-term study of eteplirsen, golodirsen, or casimersen for DMD
This study follows people with Duchenne muscular dystrophy (DMD) who are taking eteplirsen, golodirsen, or casimersen. It aims to understand how these medicines work in everyday life over a long period.
Little Rock, ArkansasAges Any age
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,762 recruiting medical genetics studies from the U.S. registry right now, out of 5,482 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.