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
- NCT06464588RecruitingPhase 1
Testing safety of newborn stem cells for dilated cardiomyopathy in young adults and children
This study tests whether a single intravenous infusion of stem cells from donated newborn tissue is safe for people aged 4 to 39 with dilated cardiomyopathy (a weakened, enlarged heart). It aims to find a new option for those who haven't improved enough with standard heart failure medications.
Atlanta, GeorgiaAges 4–40 - NCT06462430Recruiting
Registry for children with PTEN Hamartoma Tumor Syndrome
This study is creating a registry (a database) of children with PTEN Hamartoma Tumor Syndrome, a condition that can cause growths, large head size, and other health issues. By joining, you help doctors learn more about the condition and how to better care for kids like yours.
IstanbulAges 1 year+ - NCT06469918Recruiting
Support community for congenital heart defects
This trial is for people affected by congenital heart defects. It offers a support community (Co-Op) to help you connect, share, and get resources.
Rochester, MinnesotaAges birth+ - NCT06475651Recruiting
DNA patterns in rare prenatal diseases
This study looks at DNA patterns in fetuses or children with rare genetic conditions. It aims to better understand how these patterns relate to diseases that start before birth, which could help with diagnosis and future care.
ParisAges birth–18 years - 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 - NCT01873235Recruiting
Study for adults with confirmed polycystic kidney disease
This study enrolls adults with autosomal dominant polycystic kidney disease (ADPKD) to better understand the disease and its related changes in the body. It may help researchers find improved ways to track the condition and support future treatments.
Baltimore, MarylandAges 18 years+ - NCT04157179Recruiting
MRI study of brain oxygen use in children and adults
This study uses an MRI scan to measure how your brain uses oxygen. It includes healthy participants and people with sickle cell disease or who previously needed ECMO, which may help researchers understand brain oxygen problems and how to monitor them.
St Louis, MissouriAges 3–50 - NCT06458374Recruiting
Heart Amyloidosis in Carpal Tunnel Surgery Patients
This study looks for people who had carpal tunnel surgery at Ålesund Hospital to check for a rare heart condition called ATTR amyloidosis. It aims to find the disease early and see how common it is.
Ålesund, Møre og RomsdalAges 50 years+ - NCT06445322Recruiting
Finding people with Stargardt disease for ACDN-01
This prescreening study looks for people with a specific genetic eye condition called Stargardt disease to see if they might be able to join a future trial for a new treatment called ACDN-01.
San Francisco, CaliforniaAges 5 years+ - NCT06447025RecruitingPhase 2
Study of CTI-1601 for people with Friedreich's ataxia
This trial tests an injectable medicine called CTI-1601 for Friedreich's ataxia (FRDA). It is an open-label study, meaning everyone knows they are getting the drug. The study is for people who have taken CTI-1601 before (without serious side effects) or are new to the drug.
Los Angeles, CaliforniaAges 2–60 - NCT06451770RecruitingPhase 1
Testing VERVE-201 for stubborn high cholesterol or triglycerides
This trial tests a new one-time treatment called VERVE-201 for people with very high cholesterol or triglycerides that don't get better with standard medicines. The goal is to see if it can safely lower these fats in your blood.
Clearwater, FloridaAges 18–70 - NCT06449651RecruitingPhase 3
Nipocalimab to prevent low platelets in newborns
This study tests a medicine called nipocalimab for pregnant women whose babies are at risk of a bleeding condition called FNAIT. The medicine may help prevent low platelet counts and serious bleeding in the newborn.
LeuvenAges 18–45 - NCT06451757RecruitingPhase 3
Sonlicromanol for chronic fatigue in primary mitochondrial disease
This trial tests a new medicine, sonlicromanol, to see if it can ease chronic fatigue and improve muscle function in people with a specific genetic condition called primary mitochondrial disease. If effective, it could offer a new treatment option to improve daily energy and quality of life.
Boston, MassachusettsAges 18 years+ - NCT01873924Recruiting
Study of Batten disease symptoms and brain function
This study looks at how Batten disease affects the body and thinking/brain function. It may help researchers better understand the condition and how symptoms change over time.
Rochester, New YorkAges Any age - NCT04319848RecruitingPhase 1
Tissue-engineered cornea transplant for specific eye swelling conditions
This Phase 1 trial tests a new, lab-made tissue transplant to improve corneal clarity in people with certain types of corneal endothelium failure (eye swelling) caused by specific conditions. The main goal is to check safety and see if vision and corneal health improve.
SingaporeAges 21–80 - NCT06138509Recruiting
Serotonin levels in children with albinism
This study measures blood serotonin levels in children with albinism compared to children without the condition. It aims to learn if serotonin plays a role in albinism, which could help future treatments.
ParisAges 2–17 - NCT06442592Recruiting
Understanding development in kids with heart defects
This study looks at how children with complex congenital heart defects develop, especially their brain and learning skills. It will help doctors provide better support for these children.
Brest, Brittany RegionAges 3–11 - NCT06457451Recruiting
Diet and exercise program for cystic fibrosis patients on Trikafta
This study tests whether a program combining diet advice and guided exercise can help people with cystic fibrosis who are already on Trikafta improve their lean muscle mass. Participants will be randomly assigned to receive the program or continue their usual care.
AngersAges 18 years+ - NCT06450171Recruiting
Multi-cancer early detection test for people at high risk
This study tests a blood-based multi-cancer early detection (MCED) screening test in people with a high risk of cancer due to inherited gene changes or strong family history. The goal is to see if this test can find cancer early.
Boston, MassachusettsAges 22 years+ - NCT06442761RecruitingPhase 1
Stem cell collection for sickle cell disease using motixafortide
This trial tests a drug called motixafortide that helps move stem cells from your bone marrow into your blood so they can be collected for future gene therapy. It is for adults with severe sickle cell disease who may benefit from this treatment approach.
Birmingham, AlabamaAges 18 years+ - NCT06456320Enrolling by invitation
Mayo Clinic Tapestry 2.0: Multi-Omics Health Discovery
This study uses advanced testing (called multi-omics) to look at your genes, proteins, and other molecules to discover new things about health and disease. You'll need to be a Mayo Clinic patient, able to receive packages, and not have a history of blood cancer or a donor bone marrow transplant.
Scottsdale, ArizonaAges 18 years+ - NCT06446453Recruiting
Lung Ultrasound-Guided Surfactant For Preterm Infants
This study tests whether giving surfactant medication guided by a lung ultrasound, instead of by X-ray, helps preterm babies with breathing problems get better without needing a breathing tube. Babies in the study receive surfactant through a thin tube while still on non-invasive breathing support.
Hartford, ConnecticutAges birth–2 hours - NCT05419960Recruiting
Hearing and balance testing for teens with osteogenesis imperfecta
This study checks how well the inner ear and balance system work in children and young adults with osteogenesis imperfecta (OI). The goal is to better understand hearing and balance issues that can affect daily life.
ParisAges 12–20 - NCT06418256Recruiting
Study of Spleen Function Using Surgical Samples
This study collects the spleen and blood from people having surgery to remove their spleen. By studying these samples, researchers hope to learn more about how the spleen works and what happens when it doesn't function properly.
ClichyAges 18 years+
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.