Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,762 recruiting studies in this area right now.
By phase
- Not applicable2,682
- Phase 2280
- Phase 1239
- Phase 3209
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- 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
- Massachusetts107
- Arizona88
- New York84
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT06505603Recruiting
PiMZ alpha-1 deficiency progression study
This study is looking at people with a specific mild form of alpha-1 antitrypsin deficiency (PiMZ) to understand how their lung disease progresses over time. It involves lung function tests and CT scans, and may help researchers learn more about the condition.
Birmingham, AlabamaAges 18 years+ - NCT06513026Recruiting
Milk for diabetes prevention
This study tests whether drinking milk daily can help prevent type 2 diabetes in people with prediabetes and a specific gene variation. You'll be asked to drink milk or a placebo drink for several weeks while researchers monitor your blood sugar and health.
The Bronx, New YorkAges 18–70 - NCT06503367Recruiting
Observation study for children 0-5 with LAMA2 muscular dystrophy
This study follows young children with LAMA2-related congenital muscular dystrophy to learn more about the disease. It does not test a new treatment, so it may help families understand the condition better and prepare for future trials.
Los Angeles, CaliforniaAges Up to 5 years - NCT06502431Recruiting
MRI study of fluid flow in Chiari malformation type I
This study uses MRI to look at how fluid moves around the brain in people with Chiari malformation type I, a condition where brain tissue extends into the spinal canal. It aims to improve understanding of the condition and may help with future treatment decisions.
Amiens, PicardieAges 18–50 - NCT00138931Recruiting
Study genetics of inherited heart and muscle conditions
This study looks at genetic causes of inherited heart (cardiovascular) and muscle/nerve (neuromuscular) conditions. You may be asked about your family history and possibly genetic samples to help connect symptoms to specific genetic changes.
Chicago, IllinoisAges Any age - NCT03504800Recruiting
Using OCT scans to diagnose irregular corneas
This study tests whether a special eye scan called OCT can better identify causes of irregular cornea shape. Results may help doctors sort out different cornea problems so treatment choices, like certain procedures, can be more targeted.
Portland, OregonAges 14–85 - NCT04258787Recruiting
Eye drop treatment for Fuchs corneal swelling
This trial studies a treatment for people with Fuchs’ dystrophy that affects the clear layer at the back of the cornea. It may help improve how clear your vision is after the cornea can no longer pump fluid out properly.
Portland, OregonAges 18 years+ - NCT06491927Enrolling by invitation
Long-term follow-up for RGX-202 in Duchenne muscular dystrophy
This long-term follow-up study watches people who previously received the experimental gene therapy RGX-202 for Duchenne muscular dystrophy. It checks how patients are doing over time and does not involve any new treatment.
Little Rock, ArkansasAges Any age - NCT06487624RecruitingPhase 1
Study of HCB301 for advanced solid tumors and Hodgkin lymphoma
This trial tests a new drug called HCB301, which targets proteins that help cancer hide from the immune system. It is for people with advanced solid tumors or classical Hodgkin lymphoma who have tried other treatments without success.
Greenville, South CarolinaAges 18 years+ - NCT06494540Recruiting
TDC treatment for advanced non-squamous lung cancer
This study is looking at how well a new treatment called TDC (which includes durvalumab and chemotherapy) works for people with a certain type of advanced lung cancer that has spread and has specific genetic features. It aims to see if this treatment is effective and safe in the real world, and it might be an option if you are starting this therapy anyway.
Bad HomburgAges 18–120 - NCT06481306RecruitingPhase 1/Phase 2
Testing a new drug for sickle cell disease in healthy people and patients
This early-phase study tests a new drug (BMS-986470) for people with sickle cell disease who have frequent pain crises. The goal is to see if it can safely reduce crises. It includes a small group of healthy volunteers as well.
Birmingham, AlabamaAges 18 years+ - NCT06484062RecruitingPhase 1
Testing cirtuvivint alone and with ASTX727 for leukemia and MDS
This trial tests a new drug called cirtuvivint, given alone or with another drug (ASTX727), for people with acute myeloid leukemia (AML) or myelodysplastic syndromes (MDS) that has come back or not responded to treatment, and for people with high-risk MDS who have not been treated before. The goal is to see if these combinations work better than current options.
New Haven, ConnecticutAges 18 years+ - NCT06491615Recruiting
eyeGENE study: genetics of rare eye diseases
This study collects DNA samples and medical information from people with rare inherited eye diseases and their close relatives. The goal is to learn more about the genetic causes of these conditions and improve diagnosis and care.
Bethesda, MarylandAges 1 day–120 years - NCT06494709Recruiting
Eye-tracking study of attention to faces after jaw surgery
This trial uses eye-tracking to measure how people look at faces after jaw surgery (orthognathic surgery). It is designed to help researchers understand changes in social attention following the procedure.
Amiens, PicardieAges 18 years+ - NCT06477289Recruiting
Blood vessel function and thinking in sickle cell disease
This study looks at how blood vessel function in the fingers (using a simple test called arterial tonometry) relates to thinking and memory in people with sickle cell disease. It involves a non-invasive measurement and cognitive tasks.
Memphis, TennesseeAges 12–25 - NCT06479616Recruiting
Long-term follow-up for CS-101 recipients
This study checks on participants who previously received the experimental treatment CS-101. It aims to track their health over time to see how safe and effective the treatment is in the long run.
Shanghai, Shanghai MunicipalityAges 3–17 - NCT06475898Recruiting
Tracking Huntington's disease burden over time
This study follows people with Huntington's disease (or those who carry the gene) over time using online surveys. It aims to better understand how the disease progresses, which could help improve future care.
Rochester, New YorkAges 18 years+ - NCT06467344RecruitingPhase 1/Phase 2
Testing ACDN-01 for ABCA4 Stargardt eye disease
This trial tests an experimental medicine called ACDN-01 for people with Stargardt retinopathy caused by ABCA4 gene mutations. The goal is to see if it can slow or stop vision loss in an eye with already damaged central vision.
San Francisco, CaliforniaAges 12 years+ - NCT06474104Recruiting
Blood and skin sample collection for mitochondrial disease
This study collects blood and skin samples from people with primary mitochondrial disease and from healthy volunteers. The samples will help researchers better understand these diseases and develop future treatments.
Ramat Gan, IsraelAges 3–85 - NCT06465810Recruiting
Observational study for ATTR amyloidosis patients
This study follows patients with ATTR amyloidosis over time to understand how the disease affects them. It does not test a new treatment—instead, it asks you to fill out questionnaires about your health and symptoms to help doctors learn more about the condition.
La Jolla, CaliforniaAges 18–130 - NCT06463028RecruitingPhase 2
Targeted pills plus chemo for advanced endometrial cancer
This trial tests a combination of two targeted pills (sapanisertib and serabelisib) with standard chemo (paclitaxel) for endometrial cancer that has come back or spread. A substudy also looks at combining these drugs with a special diet that lowers insulin levels.
La Jolla, CaliforniaAges 18 years+ - NCT06475976Recruiting
Identifying lung types in severe BPD in preemies
This study looks at babies born very early who have severe lung disease (grade 3 BPD) and still need a breathing machine. Researchers will use tests to understand their lung problems better, which may help guide their care.
Philadelphia, PennsylvaniaAges 1 month–1 year - NCT06462430Recruiting
Registry for children with PTEN Hamartoma Tumor Syndrome
This study is creating a registry (a database) of children with PTEN Hamartoma Tumor Syndrome, a condition that can cause growths, large head size, and other health issues. By joining, you help doctors learn more about the condition and how to better care for kids like yours.
IstanbulAges 1 year+ - NCT06475651Recruiting
DNA patterns in rare prenatal diseases
This study looks at DNA patterns in fetuses or children with rare genetic conditions. It aims to better understand how these patterns relate to diseases that start before birth, which could help with diagnosis and future care.
ParisAges birth–18 years
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,762 recruiting medical genetics studies from the U.S. registry right now, out of 5,482 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.