Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,858 recruiting studies in this area right now.
By phase
- Not applicable2,772
- Phase 2282
- Phase 1235
- Phase 3215
- Phase 1/Phase 2204
- Phase 497
- Phase 2/Phase 353
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis129
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome54
- 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
- California340
- Maryland161
- Alabama132
- Massachusetts116
- New York84
- Arizona79
- Texas73
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT04240821Enrolling by invitationPhase 2
Theophylline for pseudohypoparathyroidism after prior study
This Phase 2 trial tests whether the medicine theophylline can help people with pseudohypoparathyroidism. You may be eligible only if you already completed a specific earlier randomized Phase 2 study.
Nashville, TennesseeAges 2–99 - NCT04208529Enrolling by invitationPhase 3
Long-term follow-up after receiving CTX001 infusion
This study follows people for a long time after they received CTX001 in an earlier (parent) study. It helps researchers learn about long-term safety and outcomes of the treatment.
Palo Alto, CaliforniaAges 2 years+ - NCT04205604RecruitingPhase 2
FDOPA PET scan to locate excess insulin in infancy
This Phase 2 study uses an FDOPA PET scan to find where insulin overproduction is coming from in focal congenital hyperinsulinism (FoHI) or related conditions. The goal is to help doctors better detect and localize the “source” so treatment can be more targeted.
San Francisco, CaliforniaAges birth–18 years - NCT04189822Enrolling by invitation
Heart rhythm genetic registry and blood sample bio bank
This study is building a Canadian database and tissue/blood bank for people and families with inherited heart rhythm conditions (and some inherited heart muscle diseases). It collects consented health and genetic information to help researchers better understand who is at risk and how these conditions work.
Vancouver, British ColumbiaAges Any age - NCT04141605Enrolling by invitation
Heart transplant candidates matched for better heart preservation
This study creates a worldwide registry and information database to help improve how donor hearts are preserved for transplant. If you are a heart transplant candidate, your details may be recorded to see what matching and preservation approaches work best.
Stanford, CaliforniaAges Any age - NCT04049084Enrolling by invitation
Follow-up study for people treated with gene therapy for ADA-SCID
This is a follow-up (no new treatment) study for people who previously received a gene therapy made from their own cells for ADA-SCID. It mainly tracks long-term safety and whether a marker showing the gene change can still be found.
Los Angeles, CaliforniaAges Any age - NCT03976622Enrolling by invitation
Inflammation study in vitiligo and other skin conditions
This study looks at inflammation in people with vitiligo, psoriasis, atopic dermatitis, or alopecia areata. It aims to understand how these conditions compare, which may lead to better treatments.
Bordeaux, BordeauxAges 18–75 - NCT03914664Enrolling by invitation
Brain and sensation study in adults with Tourette syndrome
This study looks at brain activity and how sensory experiences feel in adults with Tourette syndrome. It compares you to carefully matched adults without neurologic or psychiatric conditions to understand what is different in the brain.
Nashville, TennesseeAges 18 years+ - NCT03901521Enrolling by invitation
Biobank for people with autosomal dominant polycystic kidney disease
This study collects samples and health information from adults with autosomal dominant polycystic kidney disease (ADPKD) who are having their own kidney removed. It helps researchers learn more about ADPKD and its genetic changes to support future treatments.
New York, New YorkAges 18–100 - NCT03862274Enrolling by invitation
Study of development in children with CLN2 due to TPP1 changes
This study looks at how children’s development progresses in CLN2 disease caused by a specific enzyme problem (TPP1). It may help doctors better understand outcomes and guide future care for children with this diagnosis.
Columbus, OhioAges Any age - NCT03836300Enrolling by invitation
Parent-infant coaching for families with young diagnoses
This study tests a parent-and-infant coaching program for babies and caregivers. It aims to see whether the program helps after an early diagnosis when English is used at home.
Research Triangle Park, North CarolinaAges Up to 99 years - NCT03745924Enrolling by invitation
Study of Rebinyn for boys and men with Hemophilia B
This study follows males with Hemophilia B who are already on preventive (prophylaxis) treatment with Rebinyn/Refixia (a factor replacement medicine). It mainly looks at safety and how treatment is used over time, especially in people starting or continuing this prophylaxis plan.
ViennaAges Any age - NCT03690336Enrolling by invitation
Using registry records to study nonacog beta pegol safety
This study looks at safety information using existing patient registry records, not new treatment visits. It may help researchers better understand side effects of nonacog beta pegol by using real-world data.
BaarnAges Any age - NCT03527342Enrolling by invitation
Sahlgrenska heart muscle disease study
This study focuses on people with certain “heart muscle” conditions (cardiomyopathies) to better understand them and guide care. If you have one of these specific diagnoses and are an adult, you may be able to take part.
GothenburgAges 18–99 - NCT03417856Enrolling by invitation
Study skin and blood signs in ichthyosis
This study looks at “skin and blood biomarkers,” meaning measurable signs in the body, in people with ichthyosis to better understand the condition. It may help researchers find ways to track disease activity and evaluate future treatments.
Chicago, IllinoisAges 1–60 - NCT03385876Enrolling by invitation
Rapid whole genome sequencing for children with suspected genetic illness
This study quickly reads a child’s DNA using whole genome sequencing to look for genetic causes of symptoms. It may help families and doctors better understand an underlying genetic condition and guide medical care.
San Diego, CaliforniaAges Any age - NCT03176836Enrolling by invitation
TP53 mutation imaging study for Li-Fraumeni syndrome
This study takes special body images (MRI) in people from families with Li-Fraumeni syndrome, especially those who carry a TP53 gene mutation. The goal is to see whether MRI can help spot problems earlier in a higher-risk group.
Toronto, OntarioAges Up to 18 years - NCT03149341Enrolling by invitation
MRI and computer-heart simulations for heart disease
This study uses MRI scans and computer simulations to learn more about how the heart and blood flow work in people with certain heart or lung conditions. It may help researchers better understand heart problems and improve future care.
Palo Alto, CaliforniaAges Any age
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,858 recruiting medical genetics studies from the U.S. registry right now, out of 5,795 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.