Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,858 recruiting studies in this area right now.
By phase
- Not applicable2,771
- Phase 2284
- Phase 1235
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis128
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease38
- Hemophilia A38
- Cystic Fibrosis (CF)37
- Cardiac Amyloidosis35
- Huntington Disease32
- Lynch Syndrome32
- Heart Failure31
- Retinitis Pigmentosa31
- Bronchopulmonary Dysplasia30
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)27
Leading sponsors
- Assistance Publique - Hôpitaux de Paris62
- Boston Children's Hospital42
- National Institute of Allergy and Infectious Diseases (NIAID)38
- Mayo Clinic37
- Children's Hospital Medical Center, Cincinnati33
- Hospices Civils de Lyon32
- IRCCS Azienda Ospedaliero-Universitaria di Bologna32
- Riphah International University26
- Massachusetts General Hospital23
- National Cancer Institute (NCI)23
Where studies are running
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT06203106Recruiting
NYSCF Scientific Discovery Biobank
This study collects blood, saliva, or skin samples from people with certain neurological conditions and from healthy volunteers to help researchers better understand and find treatments for these diseases.
New York, New YorkAges 4 weeks+ - NCT06202846Recruiting
Looking for Y chromosome in Turner syndrome blood
This study looks for a tiny piece of the Y chromosome (a sex chromosome normally found in males) in a blood sample. It may help doctors better understand Turner syndrome and find hidden Y chromosome material that could affect health.
LyonAges 2–74 - NCT06203093Recruiting
CMT sample collection for stem cell research
This study collects blood, saliva, or skin samples from people with Charcot-Marie-Tooth disease (CMT) and healthy volunteers. The samples are used to create stem cells (iPSCs) and build a biobank to help researchers understand and treat CMT.
New York, New YorkAges 5 years+ - NCT06203873Recruiting
Comparing biodegradable vs. metal heart-hole closures for migraine
This trial compares two types of devices (biodegradable vs. metal) to close a small hole in the heart (PFO) in people who have migraine not controlled by usual treatments. It aims to see which device works better to reduce migraine attacks.
Beijing, Beijing MunicipalityAges 18–65 - NCT06205095RecruitingPhase 3
Wilate for heavy menstrual bleeding in von Willebrand disease
This trial tests whether a medicine called Wilate, given regularly (prophylaxis), can reduce heavy menstrual bleeding in women with von Willebrand disease. It compares Wilate to a placebo (a dummy treatment) to see if it helps more than no treatment.
Toronto, OntarioAges 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 - NCT06211504RecruitingPhase 4
Foot implant plus standard surgery for flatfoot
This study tests whether placing a small implant in the sinus tarsi (a space in the side of the foot) during a standard flatfoot surgery helps improve the results. It's for adults with stage II adult acquired flatfoot deformity who have not improved with conservative care.
Hässleholm, Skåne CountyAges 16–75 - NCT06213090Recruiting
Study on patterns of neurodevelopmental disorders
This study looks at patterns of brain development issues in children who visit a specific medical center. It may help doctors understand these conditions better.
Phoenix, ArizonaAges Any age - NCT06214767Recruiting
Study of treatment choices for untreated brain cavernous malformations
This study looks at how to best treat people with untreated cerebral cavernous malformations (a cluster of abnormal blood vessels in the brain). It compares outcomes between those who have surgery and those who are monitored with regular check-ups, and will follow participants for a long time to see how they do.
Beijing, Beijing MunicipalityAges Any age - NCT06213402Recruiting
European registry for rare anemia disorders
This study is creating a European registry (database) to collect information about people with rare anemia disorders. By joining, you help researchers better understand these conditions and improve care for yourself and others.
Barcelona, CataloniaAges birth–100 years - NCT06216704Recruiting
Bone health and marrow study in teens with cystic fibrosis
This study looks at how cystic fibrosis affects bone health and bone marrow in teenagers. It uses a special MRI scan to measure bone strength and marrow composition, which may help doctors better understand and prevent bone problems in people with CF.
Boston, MassachusettsAges 13–20 - NCT06217588Recruiting
LCAT Deficiency Natural History Study
This study tracks people with LCAT deficiency over time to learn more about how the condition affects the body. It does not test a treatment, but helps researchers understand the disease better so they can design future studies.
Philadelphia, PennsylvaniaAges Any age - NCT06218433Recruiting
Bladder cancer screening for Lynch syndrome with a urine test
This study is testing a urine test to see if it can find bladder cancer early in people with Lynch syndrome. If you have Lynch syndrome and are between 50 and 75, this screening could help catch cancer before it causes symptoms.
VancouverAges 50–75 - NCT06219239Recruiting
Gene therapy for transfusion-dependent beta-thalassemia
This trial tests a new gene therapy for people with beta-thalassemia who need regular blood transfusions. It uses a virus to deliver a working gene into your own stem cells, then those cells are put back into your body to help your body make healthy red blood cells.
Tianjin, Tianjin MunicipalityAges 3–35 - NCT06219421Recruiting
Using facial photos to understand genetic conditions
This study uses regular front and side facial photos to help doctors better understand facial features in people with genetic conditions or after surgery. It may help improve how we diagnose and care for these conditions.
ParisAges Any age - NCT06222697Recruiting
Safety study of Jivi for hemophilia A in Korea
This study is checking the safety of Jivi (a Factor VIII medicine) when used in normal medical care for people with hemophilia A in Korea. It is for anyone 12 or older who has used Factor VIII before or is starting Jivi as part of their regular treatment.
Multiple LocationsAges 12 years+ - NCT06224413Recruiting
Study on eli-cel for cerebral adrenoleukodystrophy
This study follows people with cerebral adrenoleukodystrophy (CALD) who have been treated with eli-cel, a gene therapy. It tracks their long-term health to see how well the treatment works in everyday care.
Boston, MassachusettsAges Any age - NCT06227182Recruiting
Comparing MRI and ultrasound for muscle health
This study compares two imaging methods, MRI and ultrasound, to see how well they measure muscle health. It may help find better ways to monitor muscle conditions without invasive tests.
Nijmegen, GelderlandAges 18–70 - NCT06227780Recruiting
Sound therapy for thinking and sensory issues in kids with developmental disorders
This trial tests whether special sound patterns played through headphones can help improve thinking and reduce sensitivity to noise in children with Fragile X syndrome or autism. The study uses a short daily listening program over several weeks to see if it makes a difference.
Cincinnati, OhioAges 5–10 - NCT06228924RecruitingPhase 1
Gene therapy for ARVC with PKP2 mutation
This trial tests a new gene therapy called TN-401 for people with ARVC caused by a specific PKP2 gene mutation. The goal is to see if the treatment is safe and can help reduce dangerous heart rhythms.
San Francisco, CaliforniaAges 18–65 - NCT06229626Recruiting
Intensive home training for hereditary spastic paraparesis SPG4
This trial tests an intensive, video-based exercise program for people with a specific type of hereditary spastic paraparesis (SPG4). It aims to see if adding extra training at home can improve walking and strength.
ParisAges 18 years+ - NCT06229769Recruiting
Angelman syndrome natural history study
This study follows people with Angelman syndrome over time to learn more about the condition. You can join if you have a confirmed genetic diagnosis and your caregiver agrees to take part.
Liège, LiègeAges Any age - NCT06235580Recruiting
Genetics and immune-brain health study
This study looks at genetic diseases that affect the immune system and the brain. It aims to better understand these conditions by comparing patients, their relatives, and healthy controls.
Paris, Île-de-France RegionAges Any age - NCT06236022RecruitingPhase 4
Sirolimus for dilated cardiomyopathy with KSHV infection
This trial tests whether the drug sirolimus (rapamycin) can help people with dilated cardiomyopathy who also have a specific virus (KSHV) in their blood. It aims to see if sirolimus can improve heart function.
Wuhan, HubeiAges 18–70
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,858 recruiting medical genetics studies from the U.S. registry right now, out of 5,764 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.