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
- NCT06741189Recruiting
Home monitoring tool for infants with heart defects
This trial tests a home monitoring tool for babies and toddlers with congenital heart defects who had surgery at Nantes University Hospital. It aims to see if remote tracking can help improve care at home.
NantesAges birth–3 years - NCT06743659Recruiting
Decision support tool for familial high cholesterol
This trial tests a computer tool that helps doctors identify and manage people with familial high cholesterol. It aims to improve care for those who may not yet have a diagnosis.
Boston, MassachusettsAges Any age - NCT06739434Enrolling by invitation
Gene Therapy for Girls with Rett Syndrome
This trial tests a new gene therapy called GCB-002 for girls with Rett syndrome. The treatment aims to help with symptoms by targeting the genetic cause.
Shanghai, Shanghai MunicipalityAges 2–10 - 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 - NCT06740162Recruiting
Physical activity program for adults with intellectual disabilities
This study tests a program to help adults with intellectual disabilities become more physically active. You and your caregiver will work with a coach to increase your daily movement, with the goal of improving health and community connection.
Fayetteville, ArkansasAges 18 years+ - NCT06739356Recruiting
Balloon treatment study for severe diaphragmatic hernia in babies
This study tests a fetal surgery (fetoscopic tracheal balloon placement) to help lungs grow in babies with a severe hole in the diaphragm. It focuses on pregnancies where the liver is also in the chest and lung size is very small.
Houston, TexasAges 18 years+ - NCT06743477Recruiting
Super transplant for severe thalassemia in children
This trial tests a new type of transplant (called 'super transplantation') for children with severe thalassemia. It aims to help those who cannot get a fully matched donor or have chosen not to have standard treatments.
Kunming, YunnanAges 7–12 - NCT04728841Recruiting
Gene therapy trial for Chinese hemophilia A
This trial tests a one-time gene therapy treatment (GS001) to help people with hemophilia A make more of the clotting factor they lack. If it works and is safe for you, it could improve how well blood clots form over time.
Tianjin, Tianjin MunicipalityAges 18 years+ - NCT06730126RecruitingPhase 2
Soquelitinib for ALPS-FAS-related swelling and low blood counts
This trial tests an investigational drug called soquelitinib to see if it can shrink enlarged lymph nodes and improve low blood cell counts in people with ALPS-FAS. It may offer a new treatment option for those who have active symptoms.
Bethesda, MarylandAges 16–120 - NCT06732414Recruiting
Long-term study of multiple allergic diseases
This study creates a biorepository to collect and store samples (blood, nasal fluid, skin swabs) from people with allergies, asthma, sinus disorders, or immune dysregulation. It aims to better understand these conditions over time, which may help develop better treatments.
Bethesda, MarylandAges 3–100 - NCT06735755RecruitingPhase 1/Phase 2
Study of BEAM-301 for glycogen storage disease type Ia
This study tests an experimental medicine called BEAM-301 for people with a specific form of glycogen storage disease type Ia (GSDIa). The goal is to see if it can help reduce dangerous low blood sugar episodes.
Orange, CaliforniaAges 18 years+ - NCT06734611Recruiting
Folic acid salt study in Zambia
This trial tests whether adding folic acid to salt can help prevent birth defects. It is for women who are not pregnant, not planning pregnancy, and not breastfeeding.
Birmingham, AlabamaAges 18–45 - NCT06737718Recruiting
Eye tracking study for children with Angelman syndrome
This trial uses eye tracking to understand how children with Angelman syndrome perceive social cues. Participation helps researchers learn more about social perception for future treatments.
ParisAges 3–17 - NCT06734949Enrolling by invitation
Computational models for neuromuscular disease
This study uses advanced computer models to better understand inherited neuromuscular diseases. It may help doctors find new ways to group patients and personalize care.
MunichAges Any age - NCT06735820RecruitingPhase 1/Phase 2
MEK and MDM2 inhibitors for NF1-related tumors
This trial tests two targeted drugs (selumetinib and milademetan) for people with neurofibromatosis type 1 (NF1) who have either a malignant peripheral nerve sheath tumor (MPNST) or an atypical neurofibromatous neoplasm with uncertain biologic potential (ANNUBP). The goal is to see if blocking certain proteins can shrink or control these tumors.
Washington D.C., District of ColumbiaAges 18 years+ - NCT06728735Recruiting
Genetic study for congenital hypothyroidism with normal thyroid location
This study uses advanced genetic testing to find the cause of permanent congenital hypothyroidism in children who have a thyroid gland in the normal position. It may help families understand why their child developed this condition.
Bologna, BolognaAges Up to 18 years - NCT06731855Recruiting
Recovery study: blood markers in newborns after intestine surgery
This study looks at blood markers in newborns after major stomach or intestine surgery. It aims to understand recovery and could help improve care for babies with similar conditions.
Liverpool, MerseysideAges Up to 5 days - NCT06729554Recruiting
Education and support program for rare disease kids
This study tests a targeted educational and support program for children and teens with rare diseases. It helps families learn more about the condition and cope better with day-to-day challenges.
Graz, AustriaAges 5–20 - NCT03580785Recruiting
Study of delayed tooth eruption in children and teens
This study looks at how doctors diagnose delayed tooth eruption and how that affects treatment. It focuses on people with a condition called Primary Failure of Eruption (PFE) and tries to refine the best diagnostic checks.
StrasbourgAges 6 years+ - NCT05848895Recruiting
Osteopathy treatment for infants with positional head shape
This study tests an osteopathic manual therapy plan (hands-on treatment) for babies with positional plagiocephaly, aiming to improve head shape and comfort. It also asks families to attend multiple treatment and measurement visits so researchers can track change over time.
San Diego, CaliforniaAges 1 day–4 months - NCT06439654Recruiting
Optimizing cholesterol treatment for heart health
This trial helps people with high cholesterol or a history of heart disease find the best treatment to lower their risk of future heart problems. It tests a program to optimize lipid-lowering therapy.
Clark, New JerseyAges 18–120 - NCT06726122Enrolling by invitation
Matrix Pro skin treatment study for ages 18-84
This study tests a new device called Matrix Pro that uses Profound Matrix technology to treat skin concerns. It aims to see if the treatment is safe and works well for people with different skin types.
Amsterdam, EKAges 18–84 - NCT06717932Enrolling by invitation
Long-term safety study of CS-101 injection
This study follows up with people who already received the CS-101 injection in a previous trial to check its safety and how well it works over time.
NanningAges 12–35 - NCT06723106Enrolling by invitationPhase 1
Long-term safety study of RAY121 for immune conditions
This study is for people who already took RAY121 in a previous trial and did well. It tests whether continuing the treatment is safe and effective over a longer period. The goal is to manage chronic immune conditions.
Camperdown, New South WalesAges 18–85
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.