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
- NCT06435468Recruiting
Biocollection for rare childhood-onset immune diseases
This study collects blood and tissue samples from patients with rare immune system diseases that started in childhood, and from their relatives and healthy volunteers. The goal is to build a biocollection for future research to better understand these diseases.
Bron, BronAges 1 year+ - NCT06434207Recruiting
Heart defect study in newborns to understand blood clots
This study looks at tiny particles from cells in newborns with heart defects to understand blood clot risks. It aims to find ways to prevent clots after heart surgery.
Boston, MassachusettsAges 1 day–1 week - NCT06431269Recruiting
Screening for developmental disorders in children with heart disease
This study is looking for children aged 1 to 5 years who have congenital heart disease and had heart surgery or a procedure in their first year. A special nurse will check for early signs of developmental delays, to see if this kind of screening is helpful for these children.
MontpellierAges 1–5 - NCT06430359Recruiting
How urine copper changes over 24 hours in Wilson disease
This study looks at how copper levels in urine change throughout the day and night in people with Wilson disease. If you take part, you will collect all your urine for 24 hours so researchers can measure copper at different times.
Bron, RhoneAges 6–70 - NCT06425796Recruiting
Body fat and iron needs in pregnancy study
This study looks at how a mother's body fat might affect her iron needs during pregnancy. If you join, you may stop taking any current multivitamins to help researchers learn more about when iron supplements are truly needed.
Coleraine, Co LondonderryAges 18 years+ - NCT06427304Recruiting
Heart scan study for amyloid protein in older adults
This trial is testing older adults with heart failure to see if a heart condition called cardiac amyloidosis (a buildup of abnormal protein in the heart) is present. If you are 80 or older, have been in the hospital for heart failure in the past year, and have a thickened heart wall, you may be able to join.
Paris, IIe-de-FranceAges 80 years+ - NCT06430385RecruitingPhase 1/Phase 2
Study of ION440 for MECP2 Duplication Syndrome
This trial tests an experimental medicine called ION440 for people with MECP2 Duplication Syndrome. The medicine is given as an injection into the spinal fluid, and the study aims to check its safety and how well it works.
San Diego, CaliforniaAges 2–65 - NCT06423573Recruiting
Skin cancer risk in epidermolysis bullosa patients using Filsuvez
This study tracks anyone with dystrophic or junctional epidermolysis bullosa who is using Filsuvez gel to see how often skin cancers appear. It is designed to understand the long-term safety of the treatment.
Palo Alto, CaliforniaAges Any age - NCT06439082RecruitingPhase 3
Crizanlizumab for sickle cell pain crises
This trial tests whether crizanlizumab can reduce painful sickle cell crises (called vaso-occlusive crises or VOCs) in people with sickle cell disease who have frequent crises. It may be an option for those who still have crises despite current treatments.
Birmingham, AlabamaAges 12–100 - NCT06435000Recruiting
A study tracking Stargardt disease progression
This study follows people with Stargardt disease (a genetic eye condition that causes vision loss) over time. It aims to learn more about how the disease progresses and does not test any treatment.
San Diego, CaliforniaAges 12–65 - NCT06429176RecruitingPhase 2
SPL84 for cystic fibrosis with 3849+10kb mutation
This trial tests a new drug called SPL84 for people with cystic fibrosis who have a specific gene mutation (3849+10kb C->T). It aims to see if the drug is safe and can improve lung function. The study has two paths: one for people not taking certain CF drugs, and one for those who are already on Trikafta or Alyftrek.
Los Angeles, CaliforniaAges 18 years+ - NCT06431893Enrolling by invitationPhase 3
Long-term study of pegtibatinase for classical homocystinuria
This trial is a long-term follow-up study examining the safety and effectiveness of pegtibatinase for people with classical homocystinuria (HCU). It is open to those who have recently taken part in or finished the HARMONY or COMPOSE studies.
Phoenix, ArizonaAges 5–65 - NCT02979119Recruiting
Haemophilia patient registry for children across Europe
This trial is a patient registry that collects medical information from children with hemophilia A or B. It may help care teams better understand bleeding patterns and treatments over time across participating hospitals.
GrazAges Any age - NCT03760835RecruitingPhase 4
Once-daily hydrocortisone for adults with congenital adrenal hyperplasia
This trial studies whether a once-daily hydrocortisone tablet works as well as standard steroid treatment for adults with congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. It aims to improve how safely and conveniently hormone replacement is taken each day.
NaplesAges 18 years+ - NCT06402942Recruiting
Game-based occupational therapy for teens with Duchenne
This trial tests a fun, game-based occupational therapy program for teens with Duchenne muscular dystrophy. It aims to help you build skills and stay engaged through activities you can do at home on a computer or tablet.
AnkaraAges 13–18 - NCT06412328Enrolling by invitation
Psychoeducation for parents of children with DMD
This study offers a psychoeducation program for parents of children with Duchenne Muscular Dystrophy. It aims to provide support and education to help you care for your child.
Ankara, CankayaAges 18–65 - NCT06410976Recruiting
Study of hypochondroplasia in children
This study is for children with hypochondroplasia, a condition that causes short stature. It will look at how the condition changes over time and aims to better understand it, with the goal of finding new treatments.
Oakland, CaliforniaAges 2.5 years–16 years - NCT06408402Recruiting
Environment and tumor risk in SDHx carriers
This study looks at whether things in the environment (like chemicals or lifestyle) affect the risk of developing certain tumors in people who have a change in their SDHx gene. It compares people with the gene change who have had a related tumor to those who haven't.
AngersAges 18 years+ - NCT06406452Recruiting
Resorbable airway splint trial for severe tracheobronchomalacia in children
This trial tests a new bioresorbable airway splint for babies and young children with severe tracheobronchomalacia (a weak, collapsing windpipe). It aims to help them breathe without a machine or tracheostomy and avoid major surgery.
Ann Arbor, MichiganAges 1 week–3 years - NCT06414967Recruiting
Music therapy for irritability in Huntington's disease
This study tests if music therapy can help reduce irritability and impulsivity in people with Huntington's disease. You'll participate in music sessions to see if it improves your mood and behavior.
PoitiersAges 18 years+ - NCT06408662Recruiting
Remote mindfulness program for tics (Tourette or tic disorder)
This study tests a mindfulness program delivered remotely (via phone or tablet) to help people with moderate to severe tics. It aims to see if mindfulness can reduce tic severity and improve quality of life.
Baltimore, MarylandAges 18 years+ - NCT06413368RecruitingPhase 2/Phase 3
Maralixibat for cystic fibrosis constipation
This trial tests a medicine called maralixibat to see if it helps children with cystic fibrosis who have chronic constipation that doesn't improve with standard treatments. The goal is to improve bowel movements and quality of life.
Los Angeles, CaliforniaAges 1–18 - NCT06408701Recruiting
Lab-grown eye cells from people with eye problems
This study uses stem cells from people with eye malformations to grow tiny 3D eye organ-like structures in the lab. The goal is to better understand how eye problems develop, which could lead to new treatments in the future.
Clermont-FerrandAges 6 years+ - NCT06420336Recruiting
Pain relief after cleft palate surgery
This study compares two ways to manage pain after cleft palate repair surgery that uses a bone graft from the hip. The goal is to see which method provides better pain control for children and teens.
Charleston, South CarolinaAges 6–18
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.