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
- NCT06605378Recruiting
Antibody and cytokine study for people with CGD
This study is checking levels of antibodies and immune-signaling molecules (cytokines) in people with chronic granulomatous disease (CGD). It aims to better understand the immune system in CGD, which may help with future treatments.
Montgomery, AlabamaAges Any age - NCT06609226RecruitingPhase 3
Long-term safety study of etavopivat for sickle cell disease or thalassaemia
This study looks at the long-term safety and benefits of taking etavopivat for people with sickle cell disease or thalassaemia who have already been helped by it in a previous trial. It aims to see if staying on the treatment continues to be safe and effective.
Birmingham, AlabamaAges 2 years+ - NCT06612268RecruitingPhase 3
Etavopivat for reducing sickle cell pain crises
This study tests an investigational oral pill called etavopivat that may help reduce pain crises in people with sickle cell disease. You may qualify if you have frequent pain crises and are not on regular blood transfusions.
Birmingham, AlabamaAges 12 years+ - 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 - NCT05432466RecruitingPhase 3
Celiprolol vs placebo for vascular Ehlers-Danlos heart vessel fragility
This Phase 3 study compares celiprolol (a blood vessel–related medicine) versus placebo to see which better reduces vascular risks in people with vascular Ehlers-Danlos syndrome. It requires confirmed COL3A1 genetic findings and specific imaging before starting.
Culver City, CaliforniaAges 15–64 - NCT06605612Enrolling by invitation
Falls risk test for people with muscle and nerve conditions
This study is creating a test to predict falls in people with neuromuscular disorders. You will fill out a questionnaire about your fall risk.
München, BavariaAges 18–65 - NCT06616857Recruiting
Smartphone app to boost activity in teens with CF
This study tests a personalized smartphone app to help teens and young adults with cystic fibrosis be more active. The app provides tailored tips and support to encourage daily physical activity.
Jacksonville, FloridaAges 13–25 - NCT06617013Recruiting
GERD in children with cystic fibrosis
This study looks at GERD (reflux) in children with cystic fibrosis. It aims to understand how common it is and how it affects them, which could lead to better care.
Durham, North CarolinaAges 2–18 - NCT06610019Recruiting
Heart imaging study using MRI
This study uses heart MRI scans to learn more about cardiovascular health in adults. If you are 18 or older and have been referred for a heart MRI at Montefiore, you may be able to join.
The Bronx, New YorkAges 18 years+ - NCT06609694Recruiting
Comparing oxygen delivery methods for children with sleep apnea
This study tests a new way to give oxygen to children aged 5-17 who have obstructive sleep apnea (a condition where breathing stops briefly during sleep). It aims to see if a demand oxygen delivery system works better than standard care. This could help children with Down syndrome who often have untreated sleep apnea.
Cincinnati, OhioAges 5–17 - NCT06612541Recruiting
Eye imaging test for premature babies at risk of ROP
This study tests a new eye imaging device to check for retinopathy of prematurity (ROP), a condition that can affect vision in premature babies. It may help doctors diagnose ROP earlier and more easily at the bedside.
Nashville, TennesseeAges 6 months–8 months - NCT06614738Recruiting
Microbes and environment in polyps after FAP surgery
This study looks at how bacteria and your environment might affect polyp growth in people with familial adenomatous polyposis (FAP) after colon removal. By collecting stool samples and medical information, researchers hope to find ways to reduce polyp risk.
Lyon, FranceAges 18 years+ - NCT06614582Enrolling by invitation
Long-term nose tube study for children with weak muscle tone
This study looks at the long-term safety and effectiveness of a nose tube (nasopharyngeal airway) for children who have obstructive sleep apnea due to weak muscle tone. It's for children who already used this device in a previous study.
Ann Arbor, MichiganAges 3–23 - NCT06609889RecruitingPhase 1/Phase 2
Testing a new drug for Lafora disease in young people
This trial tests an experimental drug called ION283, given by a lumbar puncture (spinal tap), to see if it is safe and can help with Lafora disease symptoms. It is for patients aged 10 to 18 with a confirmed genetic diagnosis.
Dallas, TexasAges 10–18 - NCT06182436Recruiting
Virtual reality for pain during eczema injection
This trial tests whether playing a virtual reality game during a dupilumab injection (for eczema) can help reduce pain and anxiety. It's for kids and teens aged 6 to 17 who are already taking or about to start this medicine.
Montreal, QuebecAges 6–17 - NCT04477863Recruiting
Follow-up study for people who had genetic testing in embryos
This trial follows up with people who chose to participate in research when getting preimplantation genetic testing (testing genes in embryos). It may help researchers understand outcomes and improve future genetic testing and counseling.
North Brunswick, New JerseyAges Any age - NCT05776069RecruitingPhase 1/Phase 2
Test drug VGA039 for bleeding control in von Willebrand disease
This Phase 1/2 study tests VGA039 in healthy adults and people with von Willebrand disease (VWD). The goal is to see if the drug is safe and how it affects bleeding-related factors, especially in people who have symptoms.
Los Angeles, CaliforniaAges 12–60 - NCT06596746Recruiting
Tracking markers for neurodegenerative diseases
This study tracks changes in people with Parkinson's disease, other movement disorders, or cognitive decline to find better ways to measure disease progression.
Cassino, FrosinoneAges 10 years+ - NCT06597019RecruitingPhase 3
Study of inclisiran for children with high cholesterol
This trial tests a medicine called inclisiran to lower high cholesterol in children ages 6 to 12 with a genetic condition called heterozygous familial hypercholesterolemia (HeFH). It may help children who still have high cholesterol despite taking other treatments.
San Francisco, CaliforniaAges 6–11 - NCT06590974Recruiting
Study of human protein C concentrate for protein C deficiency
This trial is studying a medication called TAK-662 (freeze-dried human protein C concentrate) in people with congenital protein C deficiency. The goal is to see how well it works and how safe it is for patients who need this replacement therapy.
Tokyo, TokyoAges Any age - NCT06597188Enrolling by invitation
TAVR vs. Surgery for severe bicuspid aortic valve stenosis
This trial compares a less invasive valve replacement (TAVR) with traditional open-heart surgery for people with a specific type of severe aortic valve narrowing (bicuspid valve). It aims to see which approach works better for those at intermediate or low surgical risk.
Chengdu, SichuanAges 18–75 - NCT06585449RecruitingPhase 1
Study of ALN-HTT02 for Huntington's disease
This trial tests an experimental drug called ALN-HTT02 for people with Huntington's disease. The goal is to see if it can help manage symptoms. Participants must have stage 2 or early stage 3 Huntington's disease.
EdmontonAges 25–70 - NCT06597006RecruitingPhase 3
Study of inclisiran for children with homozygous familial high cholesterol
This trial tests a new medicine called inclisiran to lower very high cholesterol in children aged 2 to 12 who have a specific genetic condition (homozygous familial hypercholesterolemia, or HoFH). You may not need to change your current cholesterol treatments, and the study will check if inclisiran can help reduce your LDL cholesterol further.
San Francisco, CaliforniaAges 2–11 - NCT06590467Recruiting
Abbott heart device registry study
This registry is a large, ongoing study that collects information about Abbott heart devices used in routine care. It helps doctors learn how well these devices work and how patients are doing over time, without changing your treatment plan.
Los Angeles, CaliforniaAges 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.