Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,863 recruiting studies in this area right now.
By phase
- Not applicable2,776
- Phase 2282
- Phase 1237
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis129
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease39
- Hemophilia A39
- 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 Human Genome Research Institute (NHGRI)23
Where studies are running
- California339
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona77
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,863 total
- NCT07636811RecruitingPhase 2
Mivelsiran for Early Alzheimer's in Down Syndrome
This trial tests a new drug called mivelsiran designed to slow early-stage Alzheimer's disease in adults with Down syndrome. The drug works by targeting amyloid, a protein that builds up in the brain and causes cognitive decline.
Maitland, FloridaAges 40–55 - NCT07575308RecruitingPhase 2
ALN-6400 for Heavy Bleeding in von Willebrand Disease
This trial tests a new medicine called ALN-6400 in teenage and adult women with von Willebrand disease (a blood clotting condition) who experience heavy menstrual bleeding. The goal is to see if this treatment can reduce bleeding and improve quality of life.
Los Angeles, CaliforniaAges 16–45 - NCT06080074RecruitingPhase 2
Emergency heart-lung machine study for children with severe heart failure
This study tests a specific heart-lung machine called Cardiohelp to help children with severe heart failure. It looks at how well the machine works and whether a blood thinner (either heparin or bivalirudin) is safer and more effective.
Palo Alto, CaliforniaAges birth–16 years - NCT06138743RecruitingPhase 1/Phase 2
Investigational treatment for adult-onset myotonic dystrophy type 1
This trial is testing a new drug called SRP-1003 for people with myotonic dystrophy type 1 (DM1) who developed symptoms after age 12. The goal is to see if it can reduce muscle problems like myotonia (difficulty relaxing muscles) and improve daily function.
Liverpool, New South WalesAges 18–65 - NCT06131983RecruitingPhase 1/Phase 2
Study drug for facioscapulohumeral muscular dystrophy type 1
This trial is testing an investigational drug, SRP-1001, to see if it helps people with facioscapulohumeral muscular dystrophy type 1 (FSHD1), a condition that causes muscle weakness. The study will check if the drug is safe and if it can slow down the loss of muscle function.
Liverpool, New South WalesAges 16–70 - NCT07435129RecruitingPhase 2
Study of apitegromab for people with FSHD
This study tests whether a drug called apitegromab can help improve muscle function in people with facioscapulohumeral muscular dystrophy (FSHD). It is for adults aged 18-60 who have mild to moderate symptoms and can walk or run 10 meters in 5 seconds or less.
Austin, TexasAges 18–60 - NCT07758816Recruiting
Better treatments for Gaucher disease with lung or bone problems
This study looks at how standard treatments for Gaucher disease affect lung problems, bone damage, and parkinson-like symptoms. It aims to find better ways to treat these complications and improve quality of life.
New Haven, ConnecticutAges 3 months–75 years - NCT06150560Enrolling by invitationPhase 3
Blood pressure medicine study for people with repaired coarctation of the aorta
This trial tests a type of blood pressure medicine (an angiotensin-II receptor blocker) to see if it can help prevent changes in the heart's structure. It is for people who have had surgery for a coarctation of the aorta and now have mild to moderate high blood pressure.
Rochester, MinnesotaAges 18 years+ - NCT05005975RecruitingPhase 3
Safety study of oral dersimelagon for erythropoietic porphyria
This trial checks the long-term safety and side effects of an oral medicine called dersimelagon in people with erythropoietic protoporphyria (EPP) or X-linked protoporphyria (XLP). It is mainly for people who have already finished an earlier dersimelagon study and are able to keep coming to clinic visits.
Huntington Beach, CaliforniaAges 12–75 - NCT07504614Enrolling by invitation
Comparing two types of tooth sealants for kids with MIH
This study tests whether a new pre-etched bioactive sealant works better than a standard resin-based one to protect permanent molars affected by molar incisor hypomineralization (MIH), a condition that makes teeth softer and more prone to cavities. It aims to find a more effective way to prevent decay in these vulnerable teeth.
IrbidAges 6–12 - NCT06747884Recruiting
Study for children with myotonic dystrophy
This study looks at how to best measure muscle health and function in children with myotonic dystrophy. It may help prepare for future treatment trials.
Little Rock, ArkansasAges 3–17 - NCT06465641RecruitingPhase 4
Methylphenidate for ADHD symptoms in KBG syndrome
This study tests if the medication methylphenidate (commonly used for ADHD) can help manage attention and behavior problems in people with KBG syndrome. Each person acts as their own test case to see if the drug works for them.
Nijmegen, GelderlandAges 6–20 - NCT07580365Recruiting
Virtual Reality Training for Kids With Muscle Diseases
This study tests whether a virtual reality-based exercise program can help children and teens with diagnosed muscle diseases improve their strength and function. Participants use a special exercise bike while wearing a VR headset to make training more engaging.
Bosisio Parini, LCAges 6–18 - 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.
El Paso, TexasAges 22 years+ - NCT06675097Recruiting
Gas after abdominal surgery: how it affects recovery
This study looks at how having gas after abdominal surgery might affect your recovery. It aims to understand if passing gas sooner could help you feel better faster and leave the hospital sooner.
Nantes, Loire AtlantiqueAges 18 years+ - NCT07287202RecruitingPhase 1/Phase 2
A study of SVG103 for people with certain brain conditions and seizures
This trial tests a drug called SVG103 (Paxalisib) in adults with brain conditions that cause hard-to-control seizures: Focal Cortical Dysplasia Type II, Tuberous Sclerosis Complex, or Hemimegalencephaly. The goal is to see if SVG103 is safe and helps reduce seizures.
Heidelberg, VictoriaAges 18–65 - NCT05664737RecruitingPhase 2
Luspatercept for adults with alpha thalassemia
This study tests a medicine called luspatercept to see if it can help people with alpha thalassemia need fewer blood transfusions. It is for adults and some teens with this condition.
Halifax, Nova ScotiaAges 12 years+ - NCT03406611RecruitingPhase 1/Phase 2
Enzyme replacement for classical homocystinuria in children
This study tests a new enzyme replacement therapy called pegtibatinase for children with classical homocystinuria (HCU). The enzyme helps break down homocysteine, which may lower its levels in the blood and reduce symptoms.
Aurora, ColoradoAges 5–65 - NCT07175038RecruitingPhase 2
Study of a new pill for pulmonary hypertension
This study tests a new pill, ROC-101, for people with pulmonary hypertension (high blood pressure in the lungs). It aims to see if the pill can improve symptoms and daily function.
Phoenix, ArizonaAges 18–80 - NCT07412028Recruiting
Gene study in women with severe insulin resistance and PCOS
This study is looking for women with a type of severe insulin resistance linked to genetics, especially those who have PCOS or a condition called lipodystrophy. The goal is to better understand the genes involved so doctors can offer more targeted treatments.
ParisAges 18–45 - NCT05611801RecruitingPhase 3
Marstacimab trial for children with hemophilia A or B
This Phase 3 study tests marstacimab, a new medicine, to help prevent or better control bleeding in children and teens with hemophilia A or hemophilia B. You may be eligible if your child’s past records show ongoing bleeding and treatment with factor replacement (or specific inhibitor-related patterns).
Salt Lake City, UtahAges 1–17 - NCT07466745Recruiting
New Pulmonary Valve Study for Kids Needing Replacement
This study tests a new type of replacement valve for children who need a new pulmonary valve (the valve between the heart and lungs). Researchers want to see if the valve works safely and well in real-world use.
Los Angeles, CaliforniaAges 1.5 years–16 years - NCT07469657Recruiting
Cost-effectiveness of a non-invasive prenatal test for genetic disorders
This study is testing a non-invasive prenatal blood test (NIPD) that can check for certain serious genetic disorders in your baby, instead of using more invasive methods like amniocentesis. If you are at risk of passing on a severe genetic condition, this test may help you get answers safely.
Paris, Île-de-France RegionAges 18 years+ - NCT06926621Enrolling by invitationPhase 2
Long-term safety and effectiveness of VX-670 for myotonic dystrophy
This study is for people who already received VX-670 in a previous trial and want to continue treatment. It will check the drug's long-term safety and how well it works for myotonic dystrophy type 1.
St Louis, MissouriAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,863 recruiting medical genetics studies from the U.S. registry right now, out of 5,730 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.