Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,863 recruiting studies in this area right now.
By phase
- Not applicable2,776
- Phase 2282
- Phase 1237
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis129
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease39
- Hemophilia A39
- 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 Human Genome Research Institute (NHGRI)23
Where studies are running
- California339
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona77
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,863 total
- NCT04046796Recruiting
Study genetics in identical twin who differ in symptoms
This study looks at DNA changes to explain why two identical (monozygotic) twins can have different symptoms. It may help clarify the cause of an unclear condition in one twin so the right diagnosis (and future treatment) can be found.
TübingenAges Any age - NCT04369209Recruiting
Study of people with FSHD1 gene changes
This is a study that follows people who have a confirmed FSHD1 genetic change (and some healthy people for comparison). It may help researchers better understand the condition and how it affects people over time.
Fuzhou, FujianAges Any age - NCT02397824Recruiting
Teeth photo study for people with rare diseases
This study looks at how rare diseases can show up in the mouth and teeth, using pictures of your teeth. It may help doctors recognize dental signs earlier and better describe these rare conditions.
Strasbourg, AlsaceAges Any age - NCT03322306Enrolling by invitation
Genetic testing study for inherited neurological conditions
This trial looks for genetic causes of inherited (in family) neurological diseases by using genetic screening. If you might have an inherited neurological condition, this study may help explain why symptoms happen and guide future care.
Hong Kong, ShatinAges 18–80 - NCT03000244Recruiting
Long-term follow-up after stem cell or gene therapy
This study checks how people do long-term after stem cell transplant, cellular therapy, or gene therapy. It may help doctors track longer-term health effects and recovery and improve future care.
Bethesda, MarylandAges 4–120 - NCT02771236Recruiting
Study of inherited eye conditions in families
This study looks at families who have inherited (passed down) eye conditions, using eye exams and blood tests. It may help researchers understand what causes these conditions and find better ways to diagnose them.
La Jolla, CaliforniaAges 4–120 - NCT01427179Recruiting
Studying genes in families affected by SCAD
This study looks at genetic (inherited) causes of spontaneous coronary artery dissection (SCAD) in families. It may help researchers understand why SCAD happens and how it could be prevented or identified earlier in others.
Rochester, MinnesotaAges 18 years+ - NCT02881970RecruitingPhase 1/Phase 2
Cord blood stem cell treatment for newborn brain injury
This early-phase study tests whether using a baby’s own cord blood stem cells is safe and feasible for newborns with brain injury from lack of oxygen around birth. It may help researchers find new ways to treat hypoxic-ischemic encephalopathy (brain injury due to oxygen deprivation) in addition to standard care like cooling.
MarseilleAges 1 day–3 days - NCT03396341Recruiting
Surveys after genetic risk results for certain breast cancer genes
This study asks women to complete surveys after learning their genetic risk results for certain breast cancer–related gene changes. It helps researchers understand how people respond and what they think or feel after getting these results.
Boston, MassachusettsAges 25 years+ - NCT05444283Recruiting
Genetic testing to understand repeat pregnancy loss causes
This study looks for genetic clues in ongoing and past pregnancies to help explain why some people miscarry repeatedly. The results may help doctors better predict and prevent future pregnancy loss.
Aurora, ColoradoAges 18–50 - NCT03758521Recruiting
Natural history study of SSADH deficiency in children and adults
This study tracks how SSADH deficiency (a genetic condition) affects health over time. There is no new drug being tested; instead, researchers collect medical history and perform certain optional scans/tests that can help describe disease patterns and future treatment needs.
Boston, MassachusettsAges Any age - NCT03478761Recruiting
Registry for people with CYP24A1 vitamin D–related kidney stone risk
This is a research registry for people who have a confirmed CYP24A1 genetic change tied to high calcium and kidney stone problems. It helps researchers better understand who is affected and may guide future studies or care approaches.
Rochester, MinnesotaAges Any age - NCT03538639Recruiting
Study blood and tissue samples for vascular disease discovery
This study collects blood (and sometimes tissue samples) from people who may have vascular (blood vessel) problems and from certain pregnant participants. Researchers use the samples to better understand vascular disease and to help guide future research.
Bethesda, MarylandAges 2–100 - NCT02863172Recruiting
Genetic studies in families with inherited colon cancer
This study looks at genetic reasons some families get colon cancer due to inherited (run-in-the-family) syndromes. It may help doctors better understand risk and tailor care for you or your relatives.
Houston, TexasAges 18 years+ - NCT05564598RecruitingPhase 2
Trial of immune therapy for newborns with congenital CMV
This Phase 2 trial tests an immune treatment made from donor T-cells to help the body fight congenital CMV infection in newborns. It may be an option if your baby is very young, has evidence of CMV infection, and meets specific blood, kidney, and liver safety limits.
Los Angeles, CaliforniaAges birth–3 weeks - NCT02621645RecruitingPhase 4
Early vs late treatment for twin reversed blood flow
This study compares two timing approaches for treating a rare twin complication called twin reversed arterial perfusion (TRAP). It aims to see whether starting treatment earlier or later leads to better baby outcomes and safety for the mother.
Houston, TexasAges 18 years+ - NCT02471287Recruiting
Genetics study for inherited eye conditions
This study looks at genes in people with inherited eye conditions and in close family members who may or may not have the condition. It helps researchers understand what causes these eye diseases and how they might be better studied in the future.
Bethesda, MarylandAges 1–120 - NCT03632239Enrolling by invitation
Share whole-genome or exome data for research
This trial is about building a large library of genetic test results (whole exome or whole genome sequencing) that researchers can use. You may be eligible if your sequencing data is available and you (or your study contact) can be reached again so researchers can include your information responsibly.
Bethesda, MarylandAges 4–120 - NCT02611089Recruiting
Study of forearm development and reconstruction in limb conditions
This study looks at how connective tissue in the forearm develops and how it behaves in people needing reconstructive surgery. It may help surgeons better plan and improve reconstruction for conditions like radial dysplasia, or for other injuries requiring similar surgery.
Oxford, OxfordshireAges Any age - NCT01694953Recruiting
Study of how MNGIE changes over time
This study follows people with MNGIE (a rare mitochondrial disease) to better understand what happens over time and how lab markers relate to health. It does not test a new drug as part of the study.
New York, New YorkAges 5 years+ - NCT03287193Recruiting
Study genes behind rare, genetic-looking illnesses
This study is trying to find the gene or body-process cause of rare diseases (or rare forms of common diseases) when the reason is not yet understood. If you qualify, you may be asked to give genetic and health information that could help doctors diagnose and understand the condition better.
DijonAges Any age - NCT06217861RecruitingPhase 1
Gene therapy for children with GA-1 not helped by standard care
This trial tests a new gene therapy (VGM-R02b) for children with Glutaric Acidemia Type 1 (GA-1) whose symptoms are not well controlled by standard treatment. The goal is to see if the therapy is safe and can help improve neurological symptoms.
Hangzhou, ZhejiangAges Up to 6 years - NCT03763864Enrolling by invitation
Testing patient skin cells to check gene-related disease causes
This trial builds lab tests using a patient’s own skin cells to see whether the disease’s underlying gene problem can be shown in the lab. If you have a rare inherited (genetic) disease with no good treatment, this could help researchers find clearer, functional ways to measure the disease and test future therapies.
LilleAges Any age - NCT06082050RecruitingEarly Phase 1
YOLT-201 for transthyretin heart disease
This trial tests a new intravenous medicine called YOLT-201 for people with a heart condition caused by buildup of a protein called transthyretin (ATTR-CM). The goal is to see if it can slow or improve the disease.
Hangzhou, ZhejiangAges 18–80
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,863 recruiting medical genetics studies from the U.S. registry right now, out of 5,730 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.