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
- 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 - NCT01109368Recruiting
Registry for people with inherited very high cholesterol
This trial is a registry that collects information from people with homozygous familial hypercholesterolemia (an inherited condition causing extremely high “bad” cholesterol). It may help researchers better understand the condition and support future studies.
New York, New YorkAges Any age - NCT00243776Recruiting
Study of heart tissue changes during certain heart surgeries
This study collects and analyzes small samples of heart tissue during specific heart operations in babies or children. The goal is to better understand how the heart develops after birth, which could improve future care.
Atlanta, GeorgiaAges Up to 20 years - NCT00345553Recruiting
Study for children with biliary atresia
This study enrolls children and young adults with biliary atresia (a condition where bile can’t flow properly from the liver) to learn from their care and outcomes over scheduled visits. It may help researchers understand the disease better and improve future treatment.
Los Angeles, CaliforniaAges 6 months–20 years - NCT01193647Enrolling by invitation
Study genetics that may raise rotator cuff injury risk
This study looks at genetic (inherited) factors that may make some people more likely to develop rotator cuff tears. You may be able to join if you’ve had a shoulder MRI for pain or you’re a close family member of someone with a documented tear.
Salt Lake City, UtahAges 18 years+ - NCT00556530Recruiting
Study genes and severity in 22q11.2 deletion
This study looks at how genetic differences affect how severe 22q11.2 deletion syndrome is for different people. It may help researchers understand what drives symptom severity and guide future care.
New York, New YorkAges Any age - NCT01137825Recruiting
Older patient cancer registry for a health check
This study is a registry that collects information from older adults who may be dealing with cancer. It includes a short health and function check to help doctors understand needs and guide care, even for people who turn out not to have cancer.
Boone, North CarolinaAges 65 years+ - NCT00478712Recruiting
Genetic study of Hirschsprung disease and family members
This study looks at genes in people with Hirschsprung disease and in their first-degree relatives (parents, siblings, and children). It may help researchers understand why Hirschsprung disease happens and how it can vary between families.
New York, New YorkAges 1 week–100 years - NCT00668187Recruiting
Study of the natural history of gangliosidosis
This study follows people with gangliosidosis to better understand how the condition changes over time. You may be asked to complete thinking/behavior tests and, if you have late-onset disease, get a head MRI (a painless scan) to help researchers track changes in the brain.
Minneapolis, MinnesotaAges Any age - NCT01238250Recruiting
Online autism genetics study for families with certain genetic changes
This study asks people with specific genetic changes linked to autism and their family members to complete online tasks and questionnaires. It may help researchers better understand how these genetic differences relate to autism traits.
Boston, MassachusettsAges Any age - 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 - 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 - 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 - 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 - 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 - 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 - NCT01186913Enrolling by invitation
Natural history study for severe combined immune deficiency (SCID)
This study follows children and adults with SCID and related immune disorders to understand how the illness behaves over time. It also helps researchers learn which testing results and genetic types of SCID match different treatment plans.
Birmingham, AlabamaAges Any age - NCT00128973Recruiting
Study immune system problems in people with unusual infections
This study looks at how the immune system works in people who have abnormal immune function, often shown by unusual or repeated infections or long-lasting inflammation. It may involve tests using blood samples and storage of blood for future research.
Bethesda, MarylandAges Any age - 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 - 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 - 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 - 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 - 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 - NCT01132885Recruiting
Brain scans in children with Williams syndrome
This study uses brain testing—often MRI scans—to learn how the brains of children with Williams syndrome are different from typical development. It may help researchers better describe brain patterns and improve future care for people with Williams syndrome.
Bethesda, MarylandAges 5–99
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.