Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,859 recruiting studies in this area right now.
By phase
- Not applicable2,773
- Phase 2283
- Phase 1236
- Phase 3215
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis128
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- 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
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,859 total
- NCT03398629Recruiting
Study of babies with slow growth or birth defects
This trial looks at how to diagnose and manage pregnancies and babies affected by slow growth before birth, birth defects, or chromosome-related conditions. It may help by improving how doctors confirm problems and plan care for mothers and newborns.
Guangzhou, GuangdongAges Up to 18 years - NCT03409003Recruiting
Carbaglu monitoring study for suspected NAGS deficiency
This study follows people who have (or might have) NAGS deficiency and who are taking Carbaglu to treat it. The goal is to better track safety and health outcomes over time.
Washington D.C., District of ColumbiaAges Any age - NCT03422614Recruiting
Study immune-system disorders in people with primary immune problems
This study looks at what is happening in the immune system for people with an inherited (primary) immune problem. It may help researchers better understand the disease and how it works.
ZurichAges Any age - NCT03434548Recruiting
Imaging study for early and late Huntington’s disease changes
This study uses repeat brain scans (including PET and MRI) to track changes in the brain caused by Huntington’s disease over time. It may help researchers understand disease progress and test how well the scans reflect early vs later disease.
London, EnglandAges 21–75 - NCT03466463Recruiting
Gene therapy for severe Crigler-Najjar liver jaundice
This trial studies a gene therapy for people with severe Crigler-Najjar syndrome, a condition that causes high bilirubin (jaundice) due to a UGT1A1 gene change. It may help reduce the need for constant bilirubin-lowering treatment like phototherapy.
ClamartAges 9 years+ - NCT03471403Recruiting
Cold snare removal for duodenal growths in FAP
This trial studies removing small growths in the duodenum (a part of the small intestine) in people with familial adenomatous polyposis (FAP) using a “cold snare” technique. It may help reduce the need for more intensive treatment and make follow-up care safer, but you must meet specific safety and readiness requirements.
Westmead, New South WalesAges 18–99 - NCT03475173Recruiting
Non-invasive eye scans for healthy and specific retinal problems
This study tests new, non-invasive ways to measure how the retina (the light-sensing part of the eye) is structured and how well it works. It may help researchers better understand certain vision disorders and how to track them, without surgery or injections.
Iowa City, IowaAges 18–99 - NCT03479580Recruiting
Registry for coronary and small-vessel heart disease in cardiomyopathy
This study enrolls people with certain types of heart muscle diseases to learn how blocked heart arteries and tiny blood vessels affect symptoms and outcomes. It may help researchers better understand these conditions and improve future care.
La TroncheAges 18–100 - NCT03494374Recruiting
Foot brace and exercise for flat feet
This trial looks at whether using a foot brace (an orthosis) plus exercises can improve symptoms from flat feet. It may help by changing how your foot and heel work when you stand or walk.
Seongnam-si, Bundang-guAges 3–10 - 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 - NCT03526159RecruitingPhase 1/Phase 2
Gentamicin treatment for certain skin blistering disease
This trial tests gentamicin, an antibiotic, for junctional epidermolysis bullosa (JEB) caused by a specific kind of genetic change in the LAMB3 gene. It may help some people with this exact mutation, but you must meet several safety and genetic requirements to join.
Los Angeles, CaliforniaAges Any age - NCT03538899RecruitingPhase 1/Phase 2
Gene therapy for children with an Artemis SCID immune problem
This early-phase study tests an “autologous” gene therapy, meaning they use the child’s own cells, adjusted with a working gene, to help restore immune function. It is for babies and children with Artemis-deficient SCID, aiming to improve T-cell immunity and reduce the need for lifelong infection risk management.
San Francisco, CaliforniaAges 2 months+ - NCT03549416Recruiting
BioDay Registry collects information on new eczema treatments
This registry study collects questionnaire information from people with atopic dermatitis (eczema) who are starting newer whole-body (systemic) treatments. It may help doctors better understand how these new options work in everyday care.
Nijmegen, GelderlandAges birth+ - NCT03549858Recruiting
Survey study on burdens and experiences of people with hemophilia
This study collects information from people with hemophilia about how treatments and daily life affect them. It uses your answers to improve patient-focused care and understand what challenges matter most.
Hamilton, OntarioAges Any age - NCT03553420Recruiting
Registry for people with lipodystrophy
This is a study that keeps a medical record (a registry) of people with lipodystrophy, a condition where body fat is missing or unevenly distributed. It may help researchers understand different causes and patterns of the condition over time.
ViennaAges Any age - NCT03564561Recruiting
Pompe disease study of walking and symptoms over time
This study follows people with Pompe disease to better understand how the disease progresses and how walking function changes. You may help researchers learn what symptoms and test results matter most, without necessarily receiving a new treatment.
Garches, Hauts-de-SeineAges 18–80 - 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+ - NCT03579875RecruitingPhase 2
Testing an inherited bone marrow transplant approach for rare blood disorders
This Phase 2 study tests a special “T-cell depleted” transplant plan for people with inherited bone marrow failure disorders (Fanconi anemia or T-Beta-thalassemia—or “TBD”). It may help restore healthy blood production while lowering the chance of certain transplant complications.
Minneapolis, MinnesotaAges Up to 65 years - NCT03587272RecruitingPhase 2
Sibling bone marrow transplant to reduce treatment side effects
This study tests a way to do a bone marrow (stem cell) transplant from an HLA-matched sibling in children with sickle cell disease, aiming to lower the risk of serious side effects. You may be considered if you have certain past sickle complications and your body can safely handle the transplant plan.
Washington D.C., District of ColumbiaAges 2–25 - NCT03587961RecruitingEarly Phase 1
Personalized testing to find the best CF medicine for you
This early study tests an individualized approach (“theratyping”) to match your cystic fibrosis (CF) to the CFTR medicine that may work best for your specific genetic change. It may help find a more tailored treatment plan and see how your body responds, while using medicines that are already approved for some people with CF.
Birmingham, AlabamaAges 6 years+ - NCT03593317RecruitingPhase 2
Test medicine that blocks hormones for ARVD heart disease
This Phase 2 trial studies whether blocking certain heart/hormone signals can improve ARVD (a heart muscle condition). It also looks at safety by checking how well your kidneys and electrolytes tolerate these medicines.
AmiensAges 18 years+ - NCT03601286RecruitingPhase 1
Gene therapy for X-linked SCID using a modified virus
This early-stage study tests a one-time lentiviral gene therapy to help children with X-linked severe combined immunodeficiency (SCID-X1) make infection-fighting T cells. It may reduce the need for a matching donor transplant, but it requires long-term follow-up for safety over many years.
London, Greater LondonAges 2 months–5 years - 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 - NCT03606200Recruiting
Join a registry for primary ciliary dyskinesia
This study is a registry that collects information from people diagnosed with primary ciliary dyskinesia. It may help researchers better understand the condition over time and improve future care.
BernAges Any age
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,859 recruiting medical genetics studies from the U.S. registry right now, out of 5,745 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.