Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,859 recruiting studies in this area right now.
By phase
- Not applicable2,773
- Phase 2283
- Phase 1236
- Phase 3215
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis128
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease38
- Hemophilia A38
- 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 Cancer Institute (NCI)23
Where studies are running
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,859 total
- NCT05400590Recruiting
Test blood-based eye drops to help cornea healing
This study compares two types of blood-derived treatments (a growth-factor enriched plasma product versus your own serum) to see which helps corneal cells heal better in people with aniridia. It may be helpful if you need improved cornea healing, but you must meet blood-safety and eye-sample requirements.
ParisAges 18 years+ - NCT05402488Recruiting
Studying sleep recovery in adults with neurodegeneration
This study looks at how sleep “recovery” works in people with neurodegenerative diseases (conditions where abnormal proteins build up). It uses sleep recordings and sounds during sleep to see how sleep patterns relate to outcomes.
Zurich, Canton of ZurichAges 18 years+ - NCT05408715Recruiting
Natural history study of growth in children with type II collagen disorders
This study follows children with certain inherited “type II collagen” conditions that cause short height, to better understand how growth changes over time. It does not test a new treatment; it mainly tracks health and growth so doctors can learn what to expect.
ParisAges Up to 12 years - NCT05410977Recruiting
Testing blood and stool for colon cancer in Lynch syndrome
This study collects blood and stool samples to see how well they can detect colorectal cancer or advanced growths in people with Lynch syndrome (an inherited colon cancer risk) or suspected Lynch syndrome. It may help find cancer or precancer earlier, which can improve next-step decisions.
Scottsdale, ArizonaAges 18 years+ - NCT05411718RecruitingPhase 2
Aspirin or naproxen to prevent cancer in Lynch syndrome
This trial tests whether daily aspirin or naproxen can “intercept” (stop) cancer from starting or coming back in people with Lynch syndrome who are currently cancer-free. Participants are randomly assigned to one of the two drugs, and neither the participant nor the team knows which one you’re taking.
Houston, TexasAges 18 years+ - NCT05413278Recruiting
Helps teens with inherited metabolism conditions move to adult care
This study tests a targeted approach to help teenagers with inherited metabolism conditions successfully transfer from children’s to adult healthcare. It may help families feel more confident and reduce problems during the handoff to adult services.
ViennaAges 14–25 - 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 - NCT05421676Recruiting
Fetal airway procedure for severe congenital diaphragmatic hernia
This trial studies a fetal procedure called FETO that places a small balloon in the baby’s windpipe to help the lungs grow in severe congenital diaphragmatic hernia (CDH). It may help babies with very small lung development after birth, but you must meet specific pregnancy, genetic, and safety requirements.
Sacramento, CaliforniaAges 18 years+ - NCT05423665Recruiting
Ultrasound check to spot early growth problems in twin pregnancies
This study uses a special ultrasound method (speckle tracking echocardiography) to look for early signs that a twin pregnancy may have impaired fetal growth. It may help clinicians detect problems earlier and better understand how twin babies’ hearts and growth are affected.
GhentAges 18–45 - NCT05424016Recruiting
Propranolol for brain blood-vessel tumors in VHL
This trial studies whether propranolol, a beta-blocker medicine, can help people with VHL who have non-urgent hemangioblastomas in the brain/spinal cord. It aims to see if the medication is safe and beneficial without needing immediate surgery.
Le Kremlin-BicêtreAges 18 years+ - NCT05426252RecruitingPhase 1/Phase 2
Lower-toxicity bone marrow conditioning for high-risk thalassemia
This trial tests a modified, lower-toxicity preparation (conditioning) before a bone marrow transplant in children and teens with high-risk thalassemia. It aims to reduce treatment side effects while still allowing transplant success for people who need a donor.
Toronto, OntarioAges 1–18 - NCT05427006Recruiting
Dental implant follow-up registry for zirconia tooth implants
This registry study follows adults after getting specific zirconia dental implants to track how they do over time. It helps the company and doctors understand safety and real-world performance of these implant products.
BerlinAges 18 years+ - NCT05432479Recruiting
Probiotic study for baby colic crying relief
This trial tests whether a probiotic can reduce symptoms of infantile colic, especially long periods of crying or fussing. If eligible, you’d use a daily crying diary and attend several study visits to see if symptoms improve.
Chicago, IllinoisAges 3 weeks–3 months - 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 - NCT05436587Recruiting
Genetic testing study for hard-to-classify bone marrow failure
This study looks for gene changes in families affected by rare inherited bone marrow failure that can cause fragile bones and fractures. It may help doctors understand the condition better by linking genetic mutations with family health patterns.
SohagAges Any age - NCT05436665Recruiting
Cornea transplant surgery for damaged corneal lining in adults
This study looks at a specific type of cornea transplant (called endothelial lamellar transplant) for people with Fuchs disease or other causes of corneal swelling that affect vision. It aims to see whether this surgical approach improves outcomes and quality of life after surgery.
Edegem, AntwerpAges 18 years+ - NCT05437536Recruiting
Severe von Willebrand disease patient registry in the U.S.
This registry collects health and bleeding information from people who have severe von Willebrand disease (a lifelong bleeding condition). Your data helps researchers understand the condition better and supports future studies that may lead to better treatments.
Wellington, FloridaAges Any age - NCT05444127Recruiting
Study of oral health in people with Wilson’s disease
This study compares oral (mouth and teeth) health in people with Wilson’s disease versus people without it. It aims to see whether Wilson’s disease is linked to specific dental and imaging findings, which could help with future prevention and care.
Ivry-sur-SeineAges 18 years+ - NCT05443906Recruiting
Home exercise program for people with neurodegenerative conditions
This trial studies whether a home exercise program is safe and helpful for people with certain neurodegenerative conditions, including X-linked adrenoleukodystrophy and DARS2-related disease, as well as some other similar diagnoses. You would be asked to do exercises at home and be assessed on your walking and strength/safety.
Baltimore, MarylandAges 5–75 - NCT05446155Recruiting
Studying test results to predict and diagnose melanoma
This study looks at diagnostic and prognostic factors in people who have suspicious pigmented skin lesions or melanoma that doctors are evaluating with surgery or tissue sampling. It may help improve how clinicians decide what the lesion is and what to expect over time.
Helsingborg, Skåne CountyAges 18 years+ - NCT05446272Recruiting
Helps premature babies breathe during breathing tube removal
This trial tests a breathing-support method (called DIVA) to help premature babies breathe safely when the breathing tube is taken out. It may help more babies transition off the ventilator and avoid breathing problems during extubation.
Little Rock, ArkansasAges birth–2 months - NCT05450653Recruiting
FETO balloon treatment for severe birth diaphragm hernia
This trial tests a special pregnancy procedure called FETO to help babies born with severe congenital diaphragm hernia (CDH) breathe better after birth. It may help by improving lung growth, but it requires close follow-up at a Chicago fetal center.
Chicago, IllinoisAges 18 years+ - NCT05450991Recruiting
Study outcomes in children with Hirschsprung’s disease
This study looks at long-term health and development outcomes in children who were diagnosed and treated for Hirschsprung’s disease or anorectal malformations. It uses both numbers and interviews to understand what happens over time after treatment, helping families and clinicians plan better care.
Liverpool, MerseysideAges Any age - NCT05452720Recruiting
Testing a new pulmonary valve replacement in children
This study tests an early, first-use version of a new pulmonary valve device for children whose own valve is not working well. It may help improve blood flow from the heart to the lungs and aims to learn how safe and effective the valve is over time.
Peoria, IllinoisAges birth–22 years
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,859 recruiting medical genetics studies from the U.S. registry right now, out of 5,745 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.