Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,756 recruiting studies in this area right now.
By phase
- Not applicable2,677
- Phase 2277
- Phase 1238
- Phase 3210
- Phase 1/Phase 2208
- Phase 497
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis125
- 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
- Maryland161
- Alabama133
- Massachusetts107
- Arizona86
- New York85
- Texas70
- Minnesota68
- Pennsylvania62
- Florida59
Recruiting studies3,756 total
- NCT03786549Recruiting
Sickle cell care transition program for teens and families
This study tests a structured program to help teens with sickle cell disease smoothly transition from pediatric care to adult care, with support for parents or legal guardians. It may help families coordinate care sooner and more confidently during this change.
Fort-de-France-La Martinique, La MartiniqueAges 16–17 - NCT07826767RecruitingPhase 1/Phase 2
Gene therapy for inherited immune disease
This trial tests a new gene therapy (SGX-001) for chronic granulomatous disease caused by a specific genetic change. The treatment tries to fix the gene in your immune cells so they can fight infections better, and the trial will follow participants for up to 15 years to make sure it's safe and effective.
UlmAges 1.5 years+ - NCT06390878Recruiting
Study on natural kindergarten yards
This study looks at how bringing nature back into kindergarten yards might affect children's health. It involves children who attend kindergarten and have not used antibiotics recently.
Helsinki, UusimaaAges 1–5 - NCT07826845Recruiting
Body donation for people with HHT
This study asks people with HHT (a genetic condition that causes abnormal blood vessels) to consider donating their body after death to help medical research. It aims to learn more about HHT by studying donated tissues.
Essen, North Rhine-WestphaliaAges 18 years+ - NCT07825883Recruiting
Home blood tests for phenylketonuria management
This study looks at whether checking phenylalanine levels at home more often helps people with classic PKU keep their levels in a healthy range. It may help you manage your diet and treatment more effectively.
KrakowAges 18–65 - NCT07827287Enrolling by invitation
Closure device for heart procedures through leg vein
This trial tests a device that helps close the puncture hole in your leg vein after a heart procedure, which may reduce bleeding and help you recover faster.
SeoulAges 19 years+ - NCT07833007Recruiting
Dietary changes for metabolic syndrome in teens with familial Mediterranean fever
This trial tests whether limiting certain foods can improve metabolic syndrome (a group of conditions like high blood sugar and extra belly fat) in teenagers who also have familial Mediterranean fever (a genetic condition causing repeated fevers and inflammation). It may help manage both conditions together.
Giza, DokkiAges 13–17 - NCT06465550RecruitingPhase 1
Gene therapy for beta-thalassemia in children and teens
This trial tests a new gene therapy (BD211) for children and teens with severe beta-thalassemia who need regular blood transfusions. The treatment uses your own blood stem cells, modified with a working gene, to help your body make healthy red blood cells and reduce the need for transfusions.
Guangzhou, GuandongAges 3–35 - NCT07820085RecruitingPhase 2/Phase 3
Oral treatment for light sensitivity in EPP and XLP
This study tests an oral medication, PORT-77, to reduce pain and sensitivity to sunlight in people with EPP or XLP. It may help those who experience symptoms shortly after sun exposure.
Huntington Beach, CaliforniaAges 12 years+ - NCT06478238RecruitingEarly Phase 1
Calcium folinate for hereditary spastic paraplegia type 56
This trial tests a drug called calcium folinate (a form of vitamin B9) to see if it can help people with a rare genetic type of spastic paraplegia (SPG56). It aims to improve leg stiffness and weakness caused by a specific gene change.
Shanghai, Shanghai MunicipalityAges Any age - NCT04531696Recruiting
Post-death breast tissue donation study for cancer research
This trial invites adults with certain breast cancer conditions to donate tissue after death. Researchers hope the donated samples will help better understand cancer and improve future treatments.
LeuvenAges 18 years+ - NCT04622410Recruiting
Hirschsprung disease patient registry study
This study keeps a research record of people who have Hirschsprung disease and have had surgery. It helps doctors better understand long-term outcomes and care needs for future patients.
LeuvenAges Up to 18 years - NCT07818122Enrolling by invitation
Quality of life in people with Chiari malformation type 1
This study aims to understand how Chiari malformation type 1 affects your daily life and well-being. By filling out a survey, you can help researchers learn more about the challenges people with this condition face.
StockholmAges 18 years+ - NCT07824297Recruiting
Cognitive outcomes after brain blood vessel malformation treatment
This trial tests whether a minimally invasive procedure to block a specific type of abnormal connection between brain blood vessels can help preserve or improve memory and thinking. It is being studied in people who have not yet had bleeding from this condition.
BolognaAges 18–99 - NCT07821190Recruiting
Blood marker for late infection in preterm babies
This study tests a new blood marker (called MDW) to help doctors quickly spot late-onset sepsis in preterm babies. If it works, it could lead to faster treatment for infections in premature infants.
TantaAges 3 days–4 weeks - NCT05994664Recruiting
Heart Coherence Training for Vascular Ehlers-Danlos
This study tests whether a breathing and heart-rate training program (called Heart Coherence Training) can help people with Vascular Ehlers-Danlos syndrome feel better. It's done from home using your phone and a computer or tablet.
Houston, TexasAges 12–45 - NCT02445534Recruiting
Registry for cell therapy in non-ischemic dilated heart muscle disease
This is a research registry that follows people with non-ischemic dilated cardiomyopathy (a weakened heart muscle) who are already on the right medications. It helps doctors better understand how cell-based therapy and related care affect heart function over time.
LjubljanaAges 18–65 - NCT03624374Recruiting
Study of LBSL in people with DARS2 mutations
This trial is a natural history study, meaning it tracks how LBSL (a genetic condition) affects the brain, brainstem, and spinal cord over time. It may help researchers better understand disease patterns and provide information that could support future treatments.
Baltimore, MarylandAges Any age - NCT07810439Recruiting
Blood test for preeclampsia during pregnancy
This study is testing a new blood test that might help doctors quickly and safely identify preeclampsia, a serious pregnancy condition. If you're at risk, this test could help you get the right care earlier.
Harare, HarareAges 18–50 - NCT07811193RecruitingPhase 2
Study of new drug combined with immunotherapy for advanced bowel cancer
This trial tests a new drug (VVD-133214) combined with an existing immunotherapy (pembrolizumab) for advanced colorectal cancer that is mismatch repair deficient. It aims to see if the combination works better than pembrolizumab alone in shrinking or controlling the cancer.
Tucson, ArizonaAges 18 years+ - NCT06207552RecruitingEarly Phase 1
Gene therapy study for children with Fabry disease
This study tests a new gene therapy for children aged 7 to 17 with Fabry disease. The treatment aims to fix the faulty gene that causes the condition, which may help reduce symptoms and prevent organ damage.
ShanghaiAges 7–18 - NCT07815249Recruiting
Speech therapy for children with rare genetic conditions and speech apraxia
This trial tests a speech therapy program for children with rare genetic conditions who also have childhood apraxia of speech, a disorder where the brain has trouble planning the movements needed for speech. The therapy is intensive—three sessions a week for four weeks—and may help improve your child's ability to speak clearly.
Melbourne, VictoriaAges 3–16 - NCT07814716Recruiting
Dental bands for treating soft enamel in children's back teeth
This study tests whether special metal bands around children's back teeth help protect teeth with soft, weak enamel (from a condition called hypomineralization) and improve the success of fillings. It compares this approach to standard dental care to see which works better.
Natal, Rio Grande do NorteAges 5–10 - NCT07810920Recruiting
Ultrasound with AI to improve diagnosis
This study uses artificial intelligence to make ultrasound scans more accurate for diagnosing conditions like endometriosis and other uterine problems. If you're planning fertility treatment or surgery, this could help doctors find issues earlier.
Budapest, BudapestAges 18–45
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,756 recruiting medical genetics studies from the U.S. registry right now, out of 5,439 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.