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
- NCT04405700Recruiting
Tracking birth outcomes and birth defects after delivery
This study follows pregnant people and their babies to better measure adverse outcomes and possible congenital (from birth) conditions. It may help improve how birth risks and birth defects are identified and recorded at the clinic.
EldoretAges Any age - NCT04402086Recruiting
Rheumatology patient and skin sample registry study at Yale
This study builds a health record and blood/skin sample collection for people with rheumatic autoimmune diseases who are getting care at Yale. It may help researchers understand these conditions and develop better tests or treatments over time.
New Haven, ConnecticutAges 18–99 - NCT04449068Recruiting
Tourette research using records from deep brain stimulation patients
This study is collecting information about people with severe Tourette syndrome who are not adequately helped by medication and may receive deep brain stimulation. It helps researchers understand outcomes and care patterns for this treatment over time using an observational database.
ParisAges 15 years+ - NCT04432623Enrolling by invitationPhase 1/Phase 2
Test drug for adults with beta thalassemia intermedia
This trial studies an investigational medicine in adults with beta thalassemia intermedia (including non-transfusion dependent thalassemia). The goal is to see how well the treatment works and how safe it is for people whose hemoglobin runs in a certain range.
Oakland, CaliforniaAges 18 years+ - NCT04475510Recruiting
Stop blood-thinner therapy after PFO closure in younger stroke patients
This trial tests whether it’s safe to stop antithrombotic (blood-thinner) treatment after a successful hole-in-the-heart procedure (PFO closure) in people age 60 and under who had an unexplained stroke or TIA. It may help some people avoid long-term blood-thinner side effects if their risk stays low.
Québec, QuebecAges 18–60 - NCT04469439Recruiting
Sinus surgery in adults with cystic fibrosis
This study looks at how endoscopic sinus surgery affects people with cystic fibrosis who have ongoing sinus problems even after medical treatments. It may help doctors understand whether surgery plus ongoing care improves symptoms and quality of life.
Los Angeles, CaliforniaAges 18–99 - NCT04414046RecruitingPhase 2
Stem cell transplant using T-cell cleanup for immune and metabolism disorders
This Phase 2 study tests a specialized stem cell transplant that removes certain “T-cells” (a type of immune cell) to treat children with serious immune system or inherited metabolic problems. The goal is to improve or stabilize disease by resetting the immune system and supporting the body’s function.
St. Petersburg, FloridaAges Up to 21 years - NCT04416178Recruiting
Survey and interviews for families affected by sickle cell disease
This study collects feedback through surveys, interviews, and focus groups from people affected by sickle cell disease. Your input helps the research team improve how genomic and gene-therapy information and needs are understood for patients and caregivers.
Memphis, TennesseeAges 13 years+ - NCT04427163Recruiting
Study of health differences using blood and data profiles
This study looks at how people’s health and disease risk show up in multiple types of information collected together (like blood-related measures and other data). It may help researchers understand what patterns are linked to health versus future disease.
OlomoucAges 18–68 - NCT04388969Recruiting
Ambroxol study for Gaucher disease and Parkinson symptoms
This trial looks at ambroxol, a medicine, for people who have Gaucher disease and Parkinson disease that is linked to Gaucher. If you fit the condition group, the study may help doctors learn whether ambroxol can improve Parkinson-related symptoms in this specific situation.
Jerusalem, Please Select...Ages Up to 100 years - NCT04440280RecruitingPhase 2
NAC drops to improve cornea disease during cataract surgery
This Phase 2 study tests whether eye drops containing a medicine called N-acetylcysteine (NAC) can reduce damaging “reactive oxygen” in people with advanced Fuchs’ endothelial corneal dystrophy (FECD). It involves people who need a special cornea transplant (DMEK) at the same time as cataract surgery, aiming to improve cornea healing and vision.
Boston, MassachusettsAges 21 years+ - NCT04454216Recruiting
Liver enzyme gene study for GSD VI or GSD IX
This study looks at the natural history (how the illness typically progresses) in people with GSD VI or GSD IX. It may help doctors better understand disease patterns, which can support future treatments.
Durham, North CarolinaAges birth–90 years - NCT04485871Recruiting
Omega-3 supplements to lower diabetes risk in at-risk adults
This trial tests whether taking omega-3 fatty acids can reduce risk factors for developing diabetes in people with normal cholesterol but other risk factors. You might be asked to follow study visits and dietary/health restrictions for about 33 weeks.
Montreal, QuebecAges 45–74 - NCT04419896Enrolling by invitation
Patient registry for people who had genetic testing
This registry collects past and ongoing health and genetic testing information from adults who have had germline or other genetic/blood biomarker tests. It helps researchers learn patterns that may improve cancer care in the future.
Redding, CaliforniaAges 18 years+ - NCT02714764Recruiting
Testing how best to measure outcomes in Alexander disease
This study is looking at which measurements best capture changes over time in people with Alexander disease. It may help researchers and doctors track the disease more accurately in future care and studies.
Philadelphia, PennsylvaniaAges Any age - NCT04322318RecruitingPhase 2
Study of combination chemotherapy for Wilms tumor in children
This Phase 2 trial tests combination chemotherapy for children with certain types of Wilms tumor—either newly diagnosed diffuse anaplastic Wilms tumor or favorable Wilms tumor that has come back. The goal is to see how well the treatment controls the tumor and is tolerable for children.
Birmingham, AlabamaAges Up to 30 years - NCT04289571RecruitingPhase 1
Virtual reality vision testing for people with retinal disease
This early-stage study uses virtual reality tasks to check how well a person can move and function using their eyesight. It may help researchers measure vision abilities in a way that could guide future care for retinal disease.
Bethesda, MarylandAges 5–120 - NCT04278131RecruitingPhase 1/Phase 2
Test eye gene therapy for retinitis pigmentosa
This Phase 1/2 study tests a gene therapy treatment (BS01) in people with retinitis pigmentosa to try to improve or preserve vision. You may be a candidate if your vision in at least one eye is quite limited and you haven’t had certain gene therapies before.
Teaneck, New JerseyAges 18 years+ - NCT04348708Enrolling by invitation
Long-term follow-up after receiving HMI 102
This study checks how people are doing long-term after they previously received a treatment called HMI 102. It may help researchers understand long-term safety and outcomes so future patients can be better supported.
Boston, MassachusettsAges 18–55 - NCT04360265Enrolling by invitationPhase 3
Follow-up gene therapy study for MPS IIIA participants
This follow-up study looks at how a past gene therapy treatment (UX111) is affecting you over time. It mainly involves continued visits and safety checks, and it helps researchers understand long-term benefits and risks.
Columbus, OhioAges Any age - NCT04339699Recruiting
PFO closure comparison trial for cryptogenic stroke
This trial studies ways to close a patent foramen ovale (PFO) to help prevent another stroke in people whose prior stroke had an unknown cause. If you qualify, you may receive one of the PFO closure approaches the study is comparing.
Tucson, ArizonaAges 18–60 - NCT04272515Recruiting
Learn from tissue or samples from biliary atresia patients
This study looks to better understand biliary atresia by studying patient information and/or samples. It may help researchers learn why the condition happens and how to improve care.
Paris, DeAges Any age - NCT04272697Recruiting
Registry study for familial cholesterol conditions
This trial is a global registry that collects health and genetic information from people with familial hypercholesterolemia (FH) and sometimes from their relatives. The goal is to better understand FH and how it presents, which can help improve care for families affected by high cholesterol.
LondonAges Any age - NCT04367246Recruiting
TP53 (Li-Fraumeni) family biobank and sample study
This study collects and stores health information and biological samples from people who have a known TP53 change (Li-Fraumeni syndrome) and from close family members. The goal is to help researchers learn more about risks and future treatments for this genetic condition.
Philadelphia, PennsylvaniaAges Any age
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.