Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,858 recruiting studies in this area right now.
By phase
- Not applicable2,772
- Phase 2282
- Phase 1235
- Phase 3215
- Phase 1/Phase 2204
- Phase 497
- Phase 2/Phase 353
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis129
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome54
- 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
- California340
- Maryland161
- Alabama132
- Massachusetts116
- New York84
- Arizona79
- Texas73
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT01694940Recruiting
Mitochondrial disease registry and sample collection study
This trial builds a large database and collection of lab results, and possibly tissue samples, from people with suspected or diagnosed mitochondrial conditions. It helps researchers learn more about these disorders and mitochondrial DNA changes, which may improve future diagnosis and treatments.
San Diego, CaliforniaAges Any age - NCT02098252Recruiting
Study for treating brain blood vessel malformations (AVMs)
This study is looking at treatment options for people who have an abnormal cluster of blood vessels in the brain (an AVM). It may help participants by offering a structured treatment approach, depending on the AVM type and recent symptoms.
Jacksonville, FloridaAges 5 years+ - NCT00178594Recruiting
Testing bleeding and clotting issues in people
This study looks at how the body stops bleeding or forms clots in people with bleeding or clotting disorders. It may help researchers understand these conditions better and improve evaluation tests.
Houston, TexasAges 1 day–98 years - NCT00061828Recruiting
Tracking Liver Disease in Newborns and Young Infants
This study follows babies under 6 months old who have early signs of liver disease (cholestasis) to better understand what causes it and how it progresses. Researchers will collect medical information over time to improve diagnosis and treatment.
Los Angeles, CaliforniaAges Up to 6 months - NCT01192048Recruiting
Study genetics in congenital heart disease
This study looks at how genes may contribute to congenital heart disease. It may help researchers better understand causes and risk in families like yours.
Columbus, OhioAges Any age - NCT01443468Recruiting
Study of Li-Fraumeni syndrome family cancer risk
This study collects medical and genetic information to better understand how often cancer develops in people with Li-Fraumeni syndrome and related family risks. It may help families and doctors plan earlier awareness and follow-up over a person’s lifetime.
Bethesda, MarylandAges Any age - NCT01143454Recruiting
Study unusual heart conditions and related genetic traits
This study looks at people with unusual or rare heart problems, or people with a family history of these issues. Doctors and researchers may collect and study your blood or tissue (and possibly store samples) to learn what causes the condition and how it may affect the heart.
Washington D.C., District of ColumbiaAges 1–100 - NCT01558479Recruiting
Parkinson’s genetics study for adults in affected families
This study looks at genetic (inherited) factors in Parkinson’s disease. It may help researchers better understand why Parkinson’s happens and could guide future prevention or treatments.
Atlanta, GeorgiaAges 18 years+ - NCT01756222Recruiting
Bicuspid aortic valve registry for adults
This study is a registry that collects health information from adults with bicuspid aortic valve disease. It may help doctors better understand outcomes and guide future care for patients and families affected by this condition.
Ann Arbor, MichiganAges 18 years+ - NCT01193075Recruiting
Study of how Charcot-Marie-Tooth (CMT) develops over time
This study follows people who have Charcot-Marie-Tooth disease (CMT) and compares them with people without nerve disease. The goal is to better understand different CMT types and how symptoms and nerve test results change over time.
Los Angeles, CaliforniaAges Any age - NCT00231400Recruiting
Pompe disease registry for people with confirmed diagnosis
This trial is a registry, meaning it collects health information from people with confirmed Pompe disease. It may help researchers better understand the disease and improve future treatments.
Birmingham, AlabamaAges Any age - NCT01873924Recruiting
Study of Batten disease symptoms and brain function
This study looks at how Batten disease affects the body and thinking/brain function. It may help researchers better understand the condition and how symptoms change over time.
Rochester, New YorkAges Any age - NCT00697411Recruiting
Study of Aicardi syndrome in X-linked disorders
This trial looks at people with features that suggest Aicardi syndrome, a rare condition that can affect the brain and eyes and may include seizures. Researchers want to better understand the condition and how it shows up, which may help guide care in the future.
Houston, TexasAges Any age - NCT01087320Recruiting
Genetic testing study to find causes of rare disorders
This study uses genome (DNA) sequencing to look for the genetic cause of rare disorders, especially when the cause is unknown. It may help some families better understand what is driving the condition, using genetic information from the affected person and often their parents.
Bethesda, MarylandAges 4 weeks–99 years - NCT00001595Recruiting
Study of pituitary tumors and related hormone gland disorders
This research study investigates tumors and disorders of the pituitary gland (a small gland that controls many body hormones) and related areas of the brain. You may qualify if you have a pituitary tumor or disorder, or if you have a family history of these conditions.
Bethesda, MarylandAges 2–70 - NCT02026388Recruiting
Kidney stone DNA and tissue sample biobank study
This study collects and stores donated samples (like blood, urine, and tissue) from people with certain rare inherited kidney stone conditions. The goal is to build a resource for future research that could help improve diagnosis and treatment.
Rochester, MinnesotaAges Any age - NCT01601171Recruiting
Genetic study of reproductive problems and cleft lip or palate
This study looks at genetic (inherited) causes of certain hormone and reproductive conditions, including Kallmann syndrome and cleft lip/palate. You might be asked for medical and family history and possibly a DNA sample, helping researchers find what drives these conditions.
Lausanne, Canton of VaudAges Any age - NCT01429389Recruiting
Testing genetic samples in pregnancy to check chromosome changes
This study collects genetic samples from pregnant people who have a higher chance of chromosome changes in the baby. It tests whether taking samples through CVS and/or amniocentesis can help understand the baby’s genetic makeup.
Birmingham, AlabamaAges 18 years+ - NCT00404560Recruiting
Blood tests to study infection risk and immune problems
This study looks at how the immune system works in people who have—or might have—an increased risk of infections. It also enrolls their healthy blood relatives so researchers can compare immune features; results may help doctors understand who is at higher risk and why.
Bethesda, MarylandAges 1 month–100 years - NCT00230685Recruiting
Review of case notes for people with HHT
This study reviews past medical records (case notes) from people with hereditary hemorrhagic telangiectasia (HHT). It helps researchers understand patterns of care and outcomes, without requiring new treatment for you.
LondonAges Any age - 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 - NCT01561157Recruiting
Long-term study of inherited porphyria conditions
This study follows people with diagnosed porphyria over time to learn more about the condition using past and new lab (biochemical) and genetic (DNA) test results. It may help researchers better understand how porphyrias work and support future care.
Birmingham, AlabamaAges 1 minute+ - NCT00237315Recruiting
Long-term study of urea cycle disorders in affected families
This study follows people with urea cycle disorders (and some people who are very likely to have one) over time. It aims to better understand how these rare enzyme problems affect health, using medical tests and family information.
Los Angeles, CaliforniaAges Any age - NCT00001403Recruiting
Understanding Proteus Syndrome and Related Growth Disorders
This study investigates Proteus syndrome, a rare condition that causes abnormal overgrowth of body parts, and related disorders. Researchers want to understand how these conditions develop, progress over time, and affect people of different ages—including how they may change into adulthood.
Bethesda, MarylandAges 1 month–99 years
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,858 recruiting medical genetics studies from the U.S. registry right now, out of 5,795 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.