Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,767 recruiting studies in this area right now.
By phase
- Not applicable2,684
- Phase 2280
- Phase 1241
- Phase 3210
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)38
- 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
- Massachusetts108
- Arizona87
- New York85
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,767 total
- 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+ - NCT05386134Recruiting
Adaptive eye imaging for inherited and acquired retinal conditions
This study tests a special high-detail camera that takes clearer pictures of the retina (the light-sensing layer at the back of the eye). It may help researchers better understand different retinal diseases—and your results could support future diagnosis and care.
Toronto, OntarioAges 5–70 - NCT05373264RecruitingPhase 3
Hydrochlorothiazide to help polycystic kidney disease and quality of life
This Phase 3 study tests whether hydrochlorothiazide can help people with autosomal dominant polycystic kidney disease (ADPKD) and improve quality of life. It also looks at whether it affects kidney health while you stay on your current ADPKD-related treatment.
GrazAges 18–80 - NCT05384821RecruitingPhase 1/Phase 2
Oral low-dose chemotherapy for relapsed Wilms tumor
This Phase 1/2 trial studies metronomic (very low, steady) chemotherapy taken by mouth or through a feeding tube for children with Wilms tumor that has come back or not responded to earlier treatment. It aims to shrink measurable tumors with better long-term tolerability than standard chemotherapy.
AmiensAges 1.5 years–17 years - NCT05355415Recruiting
Eye imaging study for outer retina diseases using adaptive optics
This study uses a special, high-detail eye imaging machine to take clear pictures of the outer retina. It may help researchers understand these eye conditions better, and how the eye images look when people have an outer retinal disease.
Bethesda, MarylandAges 21 years+ - NCT05361811Recruiting
Therapy coaching for parents of children with rare genetic syndromes
This trial tests an “Acceptance and Commitment Therapy” program for parents or legal guardians who feel moderate parenting stress. It aims to help caregivers cope in healthier ways and may also improve how they manage stress while supporting their child.
Bethesda, MarylandAges 18 years+ - NCT04281056Recruiting
Tooth loss and dentures: taste and food preferences
This study looks at how losing teeth and wearing dentures affects your mouth sensations and your food choices. It compares people who are fully without teeth (and use dentures) with people who still have their natural teeth.
ParisAges 18–79 - NCT05329350Recruiting
Device follow-up for a small hole in the heart
This follow-up study monitors how well and how safely the Occlutech mVSD device works to close certain muscular heart “holes” (ventricular septal defects). You may join if you already had the device placed and can return for scheduled checkups to help doctors learn long-term outcomes.
DublinAges 3 months–80 years - NCT05088798RecruitingPhase 2
PET/MRI scan to help plan surgery for hyperinsulinism
This Phase 2 study uses special PET/MRI imaging to better understand a cause of hyperinsulinemic low blood sugar and guide whether surgery may help. It may help doctors choose the safest plan to reduce severe episodes and protect the brain.
St Louis, MissouriAges Any age - NCT05354622Recruiting
Genetic testing study for inherited leg stiffness
This study looks at genes (DNA) to understand an inherited condition that causes gradually worsening leg stiffness. It may help researchers learn what causes the condition and potentially guide future care.
Boston, MassachusettsAges 1 month–30 years - NCT05340582RecruitingPhase 2
Ibuprofen plus acetaminophen for a heart condition in very premature babies
This Phase 2 study tests whether giving ibuprofen together with acetaminophen improves outcomes for an important heart connection (PDA) in extremely premature infants. It compares how this medicine approach affects the baby’s heart-related measurements and short-term progress.
Newcastle, New South WalesAges Up to 6 months - NCT05326451Recruiting
At-home brain stimulation for Huntington’s behavior and thinking symptoms
This trial tests an at-home, noninvasive brain stimulation treatment to help with behavioral and cognitive (thinking) symptoms in people with Huntington’s disease. You and a caregiver work together during sessions and questionnaires to see if symptoms improve and stay stable.
Houston, TexasAges 18–80 - NCT05354505Recruiting
Balloon procedure in pregnancy for severe diaphragmatic hernia
This trial studies a prenatal procedure called FETO, where a small balloon is placed in the fetal windpipe to help lung growth in babies with a severe diaphragmatic hernia. It may improve newborn outcomes by preparing the lungs before birth.
New York, New YorkAges 18 years+ - NCT05336201RecruitingPhase 2
Brain training program for teens with sickle cell disease
This Phase 2 study tests a cognitive (thinking) training program to help teens with sickle cell disease prepare for the changes in their care as they grow older. It may help with skills like learning, attention, and planning for transition to adult care.
Birmingham, AlabamaAges 10–18 - NCT05318222Recruiting
Virtual genetic evaluation for undiagnosed rare disease
This study helps children who have a rare genetic illness but have not yet received a diagnosis. It uses virtual evaluation to try to find answers and possible next steps for care.
Edinburg, TexasAges 1 day–18 years - NCT05348564Recruiting
Family genetic screening methods for heart rhythm risk
This study compares two ways to find relatives who may carry a specific inherited genetic change. It may help your family learn faster who should get follow-up testing and care.
Lancaster, PennsylvaniaAges 18 years+ - NCT05359991Recruiting
Exercise study in children and teens with lung or blood conditions
This study tests how safe and effective a structured exercise program is for children and teens. It also compares results between children with sickle cell disease, cystic fibrosis, and healthy peers (and some teens after COVID-19 infection).
Irvine, CaliforniaAges 10–17 - NCT05279040Recruiting
Trikafta plus exercise program for adults with cystic fibrosis
This study tests how starting Trikafta affects exercise ability and breathing in adults with cystic fibrosis. You may be asked to do supervised breathing and exercise tests to see if Trikafta helps your lung function and stamina.
Vancouver, British ColumbiaAges 19 years+ - NCT05299710Recruiting
Store ovarian tissue for future fertility in children
This study looks at freezing (cryopreserving) ovarian tissue before certain cancer treatments or surgeries that may affect fertility. It may help preserve the ability to have children later, especially when future fertility is at risk.
Chicago, IllinoisAges Up to 11 years - NCT05275972RecruitingPhase 3
Compare cornea surgery thickness results for FECD
This Phase 3 trial compares outcomes from two cornea transplant procedures in people with FECD, a disease that makes the cornea swell and affect vision. It may help you and others by identifying which approach best supports clear vision and stable corneal thickness after surgery.
Palo Alto, CaliforniaAges 18 years+ - NCT05284513Enrolling by invitation
Care team study for families with high cholesterol
This study tests a “reach everyone” approach in primary care clinics to improve care for people with familial hypercholesterolemia (families with very high cholesterol). It may help families get recognized sooner and get the right follow-up.
Multiple Locations, PennsylvaniaAges 26 years+ - NCT05293184Recruiting
Angelman syndrome registry to track symptoms worldwide
This trial is building a global registry for people diagnosed with Angelman syndrome. It helps researchers learn more about how symptoms change over time, which can support future studies and treatments.
Cairns, QueenslandAges Any age - NCT05301361Enrolling by invitationPhase 1
Test of brain testing during stimulant treatment for ADHD
This trial checks whether a “NIH Toolbox” set of child-friendly tests can detect changes when stimulant medicine is used for ADHD. It may help doctors better measure how well stimulant treatment is working in people with intellectual disability.
Sacramento, CaliforniaAges 6–24 - NCT05302271RecruitingPhase 1
Gene therapy for the heart problems in Friedreich's ataxia
This trial tests a one-time gene therapy that delivers a corrected copy of the frataxin gene directly to the heart. It aims to improve or stabilize heart function in people with Friedreich's ataxia who have early or advanced heart involvement.
New York, New YorkAges 12–50
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,767 recruiting medical genetics studies from the U.S. registry right now, out of 5,497 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.