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
- NCT03891160Recruiting
Using heart scans to plan a support pump in children
This trial is testing a way to help doctors assess babies and children with congenital heart disease and heart failure before placing a temporary heart support pump. It may help improve planning by using heart scans to decide who needs support and how to prepare.
Gainesville, FloridaAges Any age - NCT06112327Enrolling by invitation
Long-term follow-up for a gene editing heart therapy
This study follows people who already received an experimental gene editing treatment for cardiovascular disease in a prior Verve trial. The goal is to monitor their health and any long-term effects over time.
AucklandAges 18 years+ - NCT06128629RecruitingPhase 3
A study of NTLA-2001 for transthyretin amyloidosis with heart problems
This study tests a new treatment, NTLA-2001, for people with a type of heart disease called transthyretin amyloidosis with cardiomyopathy. It aims to see if the medicine can help improve heart function and quality of life.
Tucson, ArizonaAges 18–90 - NCT06120270Recruiting
CeraFlex PFO closure study for migraine or stroke
This study tests a device called CeraFlex PFO Occluder to close a small hole in the heart (PFO) that may be causing migraines or strokes. If you have a PFO with related symptoms, the device might help prevent future events.
BremenAges 18–85 - NCT06121011Recruiting
Pompe disease patient registry study
This is a registry study that collects information over time from people with Pompe disease. It helps doctors and researchers better understand the condition and how it affects daily life, without testing any new treatments.
Little Rock, ArkansasAges Any age - NCT06111638RecruitingPhase 2/Phase 3
Gene therapy for severe hemophilia A
This trial tests a gene therapy to help your body produce more of the clotting protein (factor VIII) it's missing. It may reduce or stop the need for regular factor infusions.
Beijing, Beijing MunicipalityAges 18 years+ - NCT03160274Recruiting
Genetic testing for certain adrenal and nerve tumors
This study looks at genetic (DNA) changes in people with pheochromocytoma or paraganglioma and related conditions. It may help clarify why these conditions happen and how they run in families.
San Antonio, TexasAges Any age - NCT00082108Recruiting
Muscle Disease and Family Health Registry
This is a registry study that collects health information from people with myotonic dystrophy (a genetic muscle disease that causes weakness and stiffness) or facioscapulohumeral muscular dystrophy (a genetic condition affecting shoulder and face muscles), as well as their unaffected family members. The information helps researchers better understand these conditions and track how they progress over time.
Rochester, New YorkAges Any age - NCT01484678Recruiting
MRI and body biomarkers study for muscular dystrophy
This study uses MRI scans and blood or other biomarkers to better understand muscular dystrophy in people with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). It may help researchers track disease changes and identify measurable markers over time.
Gainesville, FloridaAges 5–62 - NCT06125847RecruitingEarly Phase 1
Gene therapy for inherited high cholesterol
This trial tests a one-time gene therapy to lower extremely high cholesterol in people with a rare inherited condition. It may help reduce heart attack risk in those who haven't responded to standard treatments.
Xi'an, ShaanxiAges 12–55 - NCT06124196Recruiting
Wearable device study for Duchenne muscular dystrophy
This study uses a wearable device to track your blood sugar levels and heart rate patterns over time. It aims to understand how these are related to Duchenne muscular dystrophy (DMD) and may help improve care.
Nashville, TennesseeAges 10 years+ - NCT06105736Recruiting
Online behavior program for children with tuberous sclerosis
This study tests a program called 'Regulating Together' for children with tuberous sclerosis complex who have behavior challenges. The program is done online with your child and you, and may help improve self-control and reduce outbursts.
Carrboro, North CarolinaAges 8–17 - NCT04706013RecruitingPhase 3
Oral vitamin B6 treatment for PNPO deficiency
This Phase 3 study tests an oral form of vitamin B6 (P5P) to treat PNPO deficiency, a rare genetic condition that can cause seizures. It’s meant for people whose seizures are usually controlled on this treatment, to confirm the best approach going forward.
Birmingham, AlabamaAges Any age - NCT05567744Recruiting
Registry for families affected by CADASIL
This trial is a registry that collects information from adults who have CADASIL in their family, or who may be at risk. It helps researchers better understand CADASIL and who it affects, which can support future studies.
Madison, WisconsinAges 18–90 - NCT00230165Recruiting
Genetics and blood testing for inherited bleeding disorders
This study looks at genes and blood function in people with inherited (passed-down) problems with platelets, white blood cells, or blood clotting. It may help improve understanding of the cause of these conditions and how they work in the body.
New York, New YorkAges Any age - NCT05932589Recruiting
Study of brain signals as signs of Rett syndrome
This study measures brain and nerve activity (brain signals) to find patterns that match Rett syndrome. It may help researchers better track Rett changes over time and develop more precise ways to measure response in future treatments.
Los Angeles, CaliforniaAges 1–18 - NCT02050113Recruiting
Custom endograft repair for complex aortic aneurysms
This trial tests custom-made and doctor-modified grafts to treat complex bulges in the aorta (the body’s main artery) or the part going into the pelvis. It may help people who cannot use standard approved devices or who need treatment urgently because waiting is unsafe.
Worcester, MassachusettsAges 18 years+ - NCT03047369Recruiting
Myelin brain disorder research biobank for samples and data
This study collects brain-related medical information and biological samples to help researchers better understand leukodystrophies and other white-matter brain disorders. It may help future diagnosis and treatments by building a valuable “biobank” of patient data and samples.
Los Angeles, CaliforniaAges Any age - NCT06090669RecruitingPhase 1
Trial of imatinib for people with RUNX1 deficiency
This trial tests if imatinib can help people with a genetic condition called RUNX1 deficiency, which causes bleeding problems. It aims to increase the activity of the RUNX1 gene to improve blood clotting.
Bethesda, MarylandAges 18–120 - NCT06096857RecruitingPhase 2
Cardamom and topical bacteria cream for eczema
This study tests whether taking cardamom by mouth and applying a cream made from a harmless bacteria (Roseomonas) can help treat eczema (atopic dermatitis) in people age 2 and older.
Bethesda, MarylandAges 2–100 - NCT06092346Recruiting
Understanding rare purine and pyrimidine metabolism disorders
This study aims to learn more about rare disorders of purine and pyrimidine metabolism (DPPM), which can affect the brain, immune system, kidneys, and muscles. Researchers will study people with these disorders, their family members, and healthy volunteers to better understand the condition over time.
Bethesda, MarylandAges 1 month–100 years - NCT05262907Recruiting
Study of heart imaging in people with one pumping ventricle
This study uses routine heart scans (either echocardiogram or MRI) to better understand single-ventricle heart conditions. It may help improve how doctors evaluate and monitor your heart over time.
Durham, North CarolinaAges Any age - NCT06096116RecruitingPhase 3
Trial of a blood product for heparin resistance during heart surgery
This study tests a blood-derived medicine (antithrombin) to help people who do not respond well to the blood thinner heparin during heart surgery. It aims to make surgery safer by improving blood thinning.
Stanford, CaliforniaAges 18–85 - NCT06092034RecruitingPhase 2
Gene therapy for Danon disease in males
This trial tests a gene therapy called RP-A501 for males with Danon disease, a genetic condition that affects the heart. The treatment aims to fix the faulty gene to help improve heart function and slow disease progression.
La Jolla, CaliforniaAges 8 years+
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.