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
- NCT00051857Recruiting
MRI Study of Muscle and Bone Function
This research study uses MRI scans (a safe imaging tool) to understand how bones, muscles, and joints work. Researchers are looking for both people with muscle or bone injuries and healthy volunteers to compare how the body moves and functions.
Bethesda, MarylandAges 5–95 - 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 - NCT00359684Recruiting
Cysteamine treatment for cystinosis
This trial looks at the use of cysteamine to treat cystinosis, a rare inherited condition. It may help lower harmful cystine buildup in the body and improve outcomes, especially early in life.
Bethesda, MarylandAges 1 week–115 years - NCT00001975Recruiting
Skin Tumors and Tuberous Sclerosis Study
This study looks at skin growths that develop in people with tuberous sclerosis (a genetic condition affecting multiple organs). Researchers want to understand these skin changes better and may test new treatments to help manage them.
Bethesda, MarylandAges 18–90 - NCT00246857Recruiting
Screening study for inherited immune system conditions
This study screens people who may have an inherited immune system condition (like problems with immune cell growth or death) and their blood relatives. The goal is to understand the condition better by collecting blood samples for testing.
Bethesda, MarylandAges 1 month–100 years - NCT00001532Recruiting
How Genes Affect Lung Disease Development
This research study examines how genetic factors contribute to various lung diseases, including alpha-1 antitrypsin deficiency, cystic fibrosis, and chronic obstructive pulmonary disease. Researchers want to understand why some people develop lung disease and how genetics plays a role, which may help improve treatment in the future.
Bethesda, MarylandAges 2–90 - NCT00018889Recruiting
Understanding Movement Disorders Through Genetics and Traits
This research study helps scientists understand how genes and family traits connect to movement disorders like Parkinson's disease or tremor. You may be asked to answer questions about your symptoms, provide family history, and possibly have an MRI scan to help researchers learn more about these conditions.
Bethesda, MarylandAges 2–100 - NCT00001215Enrolling by invitation
Understanding Genetic Lysosomal Storage Disorders
This study aims to understand genetic factors in lysosomal storage disorders—rare conditions where the body cannot break down certain substances. Researchers will collect information from patients with these disorders, their family members, and healthy volunteers to learn how these diseases develop and affect people over time.
Bethesda, MarylandAges 1 week–110 years - NCT00026884Recruiting
Blood and tissue sample collection for cancer research
This study collects blood and tissue samples from people with cancer or suspected cancer, or from their blood relatives. Researchers use these samples to better understand cancer and develop new treatments.
Bethesda, MarylandAges 2 years+ - NCT01087320Recruiting
Gene discovery through genome sequencing for rare disorders
This study uses advanced gene sequencing to look for the genetic cause of rare diseases that haven't been explained yet. You or a family member might join to help find a diagnosis and contribute to medical research.
Bethesda, MarylandAges 4 weeks–99 years - NCT00605878Recruiting
Skin microbiome study in healthy people and eczema patients
This study looks at the types of germs on the skin (skin microbiome) in healthy people and people with skin conditions, including atopic dermatitis (eczema). Researchers collect skin samples to understand how skin germs differ and how that may relate to skin health.
Bethesda, MarylandAges 2–100 - NCT00078078Recruiting
Understanding Methylmalonic Acidemia and Cobalamin Disorders
This research study follows patients with methylmalonic acidemia (a rare metabolic disorder affecting how the body breaks down certain proteins) or cobalamin (vitamin B12) disorders to better understand how these conditions develop and progress over time. Researchers will collect medical information, blood samples, and eye exams to help improve future treatments.
Washington D.C., District of ColumbiaAges 1 month–115 years - NCT00001465Recruiting
Study of lymphangioleiomyomatosis (LAM) disease process
This study looks at the natural history and disease process of lymphangioleiomyomatosis (LAM), a rare lung disease that mostly affects women. It may help understand how LAM progresses and how it affects daily life, and may include exercise testing and other evaluations.
Bethesda, MarylandAges 16–100 - NCT00943514Recruiting
Study of bronchiectasis and why infections keep coming back
This study follows children (age 5+) and adults with bronchiectasis or ongoing/repeated lung infections to learn what makes infections more likely. It mainly looks at non–cystic fibrosis causes, but may include some related conditions to compare differences.
Bethesda, MarylandAges 5–100 - NCT00047996Enrolling by invitation
Blood Donation Study for Blood Vessel Research
This study collects blood and urine samples from adults to help researchers understand diseases affecting blood vessels. Your donation helps scientists develop better treatments.
Bethesda, MarylandAges 18–100 - NCT01222741Recruiting
Study of people with higher risk of fungal infections
This study looks at immune system differences that can make some people get unusual or frequent fungal (fungus) infections. It may help researchers better understand these conditions, and you may be asked to store blood for future research.
Bethesda, MarylandAges 18–85 - 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 - NCT00006150Recruiting
Understanding Hyper-IgE Syndrome: Natural History and Genetics
This study follows people with or suspected Hyper-IgE syndrome (a rare immune disorder causing repeated infections and skin problems) to understand how the condition develops, how best to manage it, and which genes are involved. Researchers also welcome healthy relatives of patients to help identify genetic patterns.
Bethesda, MarylandAges 1 month–120 years - NCT00369421Recruiting
Diagnosis and care for inherited metabolic conditions
This trial helps evaluate people who may have an inherited (genetic) metabolic or related disorder, and sometimes includes treatment or guidance based on the diagnosis. It may involve blood and urine testing, and participation can include in-person visits or telehealth.
Bethesda, MarylandAges 1 month–115 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 - NCT00001456Recruiting
Understanding Hermansky-Pudlak Syndrome: Research Study
This research study investigates Hermansky-Pudlak Syndrome (HPS), a rare genetic condition affecting blood clotting and skin color. Researchers are looking for people with HPS or their family caregivers to participate in clinical evaluations and questionnaires to better understand the condition.
Bethesda, MarylandAges 1 month–115 years - 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 - NCT00005909Recruiting
Understanding Alkaptonuria: A Research Study
This study examines alkaptonuria, a rare inherited condition where the body cannot break down certain amino acids, leading to dark urine and joint problems. Researchers want to learn more about how this disease develops and progresses to improve future treatments.
Bethesda, MarylandAges 2–115
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.