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
- 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 - NCT03851484Recruiting
Study sensory symptoms in people with Tourette-related tics
This study looks at sensory symptoms in adults who have Tourette syndrome or similar long-term tic disorders. Your answers to questionnaires may help researchers understand these symptoms and how they relate to the condition.
Nashville, TennesseeAges 18 years+ - NCT03750266Recruiting
3D models to help manage babies with diaphragmatic hernia
This study uses 3D animation and physical models to help plan care for pregnancies where the baby has diaphragmatic hernia (CDH). It may help patients and clinicians understand the baby’s condition better and make management decisions more easily.
Sheffield, South YorkshireAges 18 years+ - NCT03731000Recruiting
Testing a glue-like treatment for abnormal brain vessel leaks in children
This trial studies a device that delivers a special “embolic” material (often described as glue) to treat a type of abnormal connection in the brain’s blood vessels (dAVF). It may help by blocking the leaking or risky blood flow, and it will be compared against how doctors handle eligible cases with other embolic materials.
New York, New YorkAges Up to 21 years - NCT03810651RecruitingEarly Phase 1
Radiation planning for kidney tumors in children and teens
This early study tests a type of radiation delivery (“pencil beam scanning”) for certain kidney cancers in children and teens. It may help doctors better target the tumor while reducing radiation to nearby healthy tissue.
Philadelphia, PennsylvaniaAges birth–30 years - 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 - NCT03789721Recruiting
ALD registry study for patients and families in the U.S.
This study builds a national registry to better understand adrenoleukodystrophy (ALD) in patients and families. You may help researchers learn how ALD affects people over time and improve future care.
Minneapolis, MinnesotaAges Any age - NCT03876847Enrolling by invitation
Study genetics in people with spontaneous artery tears
This study looks for genetic (inherited) reasons some people develop SCAD, a sudden tear in a heart artery. It compares people with SCAD to people without it and may help doctors recognize risk and causes.
Ages Any age - 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 - NCT03775954Recruiting
Fetal heart testing in high-risk pregnancies after baby loss
This study checks unborn babies’ heart signals using special scans during pregnancy and then checks the baby’s heart shortly after birth. It may help researchers understand why certain high-risk pregnancies can lead to fetal demise and improve care.
Madison, WisconsinAges 18 years+ - NCT03773159Recruiting
Testing a blood clot test using whole blood flow
This trial tests a new lab device that measures how well your body forms primary blood clots while blood is kept in flowing conditions. It may help doctors better assess bleeding or clotting tendencies and guide future care.
BesançonAges 18 years+ - NCT03721068RecruitingPhase 1
CAR T-cell treatment for hard-to-treat childhood tumors
This Phase 1 study tests an experimental CAR T-cell treatment that targets GD2, with added immune-boosting and safety features, for children with relapsed or refractory neuroblastoma or osteosarcoma. It’s designed to see if the treatment is safe and can shrink these cancers when standard therapy hasn’t worked.
Atlanta, GeorgiaAges 1.5 years+ - NCT01532791Recruiting
Study of mitochondrial mutation m.3243A>G in families
This study looks at the natural course of a specific inherited mitochondrial DNA change (m.3243A>G) over time. It may help doctors better understand how this mutation affects health and outcomes, even if no treatment is given.
New York, New YorkAges 4 years+ - NCT02593565Recruiting
Pregnancy blood-vessel disease registry study
This is a pregnancy registry that collects information from people with certain blood-vessel inflammatory diseases during pregnancy. It helps researchers better understand these conditions in pregnancy and may guide future care.
Tampa, FloridaAges 18–50 - NCT03581318Recruiting
Heart MRI study for people with and without heart disease
This study uses magnetic resonance imaging (MRI) to take detailed pictures of the heart. It aims to improve how doctors use heart MRI to diagnose and manage heart conditions.
Bethesda, MarylandAges 7–100 - 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 - 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 - NCT03685721Recruiting
Study genes in sickle cell disease to compare blood test activity
This study looks at how a person’s genes relate to certain measurements in red blood cells in people with sickle cell disease. The goal is to understand why blood cell function varies and how that might guide future care.
Bethesda, MarylandAges 18–80 - NCT03604835Recruiting
MPS VII monitoring program for patients and caregivers
This trial enrolls people with mucopolysaccharidosis type VII (MPS VII) to track their health over time. It may help your care team better understand how the condition behaves and how monitoring should be done.
Orange, CaliforniaAges Any age - NCT03695978Recruiting
Testing new clotting factor for people with untreated or minimally treated Hemophilia A
This study tests how well and how safely Octapharma’s clotting factor products (Nuwiq, Octanate, or Wilate) work in people with Hemophilia A who are newly treated or have had very few clotting factor doses. It also looks at how often side effects occur and how the treatments are used in real care.
Miami, FloridaAges Any age - NCT03612310Recruiting
Study uses stem cells to model genetic diseases
This study looks at how to create laboratory models of genetic diseases using stem cells made from people’s cells. It may help researchers understand disease causes and how treatments could work, using genetic patients (and some non-patient controls).
Edinburgh, MidlothianAges 1–120 - 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 - NCT03704207Recruiting
Testing a diagnostic workup to guide care for PCD
This study checks whether using “PCD diagnostics” helps clinicians make better care decisions for people being evaluated for PCD. You might be able to join if you’re referred for PCD diagnosis and can complete the study steps.
Nashville, TennesseeAges 1 year+ - NCT03568630Recruiting
Blood tests to study early pancreatic cancer risk
This study looks at blood “markers” to find early signs or higher risk for pancreatic cancer. You may join if you have certain risk factors (like new diabetes, pancreatic cysts/pancreatitis, or a strong family history) and can come to Omaha for blood draws twice a year.
Omaha, NebraskaAges 19 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.