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
- 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 - NCT00082108Recruiting
Muscle Disease and Family Health Registry
This is a registry study that collects health information from people with myotonic dystrophy (a genetic muscle disease that causes weakness and stiffness) or facioscapulohumeral muscular dystrophy (a genetic condition affecting shoulder and face muscles), as well as their unaffected family members. The information helps researchers better understand these conditions and track how they progress over time.
Rochester, New YorkAges Any age - NCT00950118Recruiting
Study for people with congenital diaphragmatic hernia or family history
This study is for people who have a congenital diaphragmatic hernia (a birth-related opening in the diaphragm) or whose family member has had one. The research aims to learn more about the condition using molecular (cell-level) science, which may help improve understanding and future care.
Chicago, IllinoisAges 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+ - NCT00005095Recruiting
Ovarian cancer risk study: specimens and health data
This study collects tissue samples and medical information from people at higher risk for ovarian cancer or undergoing gynecologic surgery. Researchers use this data to develop better ways to detect and prevent ovarian cancer early.
Chicago, IllinoisAges 18–80 - NCT01604395Recruiting
Long-term growth hormone check for children with short stature
This study follows children who are short for their age and checks how safe and effective growth hormone is over the long term. It may help families understand expected benefits and side effects for their specific growth-related condition.
SeoulAges 2 years+ - NCT02009345Recruiting
Study for inherited high cholesterol in families
This trial focuses on people with familial hypercholesterolemia (FH), an inherited condition that causes very high cholesterol. It aims to better understand and manage severe cholesterol problems that raise heart risk, especially in families.
Montreal, QuebecAges Any age - 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+ - 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 - NCT01633489Recruiting
LAL deficiency patient registry
This study keeps a protected record of people with Lysosomal Acid Lipase (LAL) deficiency to learn more about the condition over time. It may help researchers better understand how patients are doing and support future studies.
Phoenix, ArizonaAges Any age - NCT00230165Recruiting
Genetics and blood testing for inherited bleeding disorders
This study looks at genes and blood function in people with inherited (passed-down) problems with platelets, white blood cells, or blood clotting. It may help improve understanding of the cause of these conditions and how they work in the body.
New York, New YorkAges Any age - 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 - NCT00005917Recruiting
Understanding Chediak-Higashi Syndrome: A Research Study
This study helps researchers understand Chediak-Higashi syndrome, a rare genetic condition that affects how the body fights infections and controls bleeding. Participation involves medical evaluation and may help guide future treatments.
Bethesda, MarylandAges 1 month–70 years - NCT00272883Recruiting
Study genes in congenital muscle weakness
This research study looks at genes and molecules to better understand congenital myopathies (birth-related muscle weakness). It may help explain the cause of symptoms and improve future diagnoses for you and your family.
Boston, MassachusettsAges Any age - NCT01403402Recruiting
Study of congenital muscle disease patients and their families
This trial collects health information from patients with certain inherited (genetic) muscle diseases and from their families. It may help researchers better understand the disease and improve care by learning what symptoms and treatments patients experience over time.
Lakewood, CaliforniaAges Any age - 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+ - NCT01659749Recruiting
Support and nutrition programs for women with PKU
This study looks at how educational, social support, and nutrition help affect pregnancy outcomes and quality of life in women with PKU. It may help you better manage PKU-related needs before and during pregnancy.
Atlanta, GeorgiaAges 11 years+ - NCT02014389Recruiting
Testing pupil measurements with colored light in eye exams
This study checks how well a device can measure how your pupils respond to colored light. It may help improve eye testing, especially when monitoring certain vision and nerve conditions.
Tel LitwinskyAges 18–80 - NCT00710177Recruiting
Study genes and risk of persistent lung blood pressure in newborns
This study looks at a newborn’s genes (PTGS1 variation) and whether that relates to persistent pulmonary hypertension of the newborn (PPHN), a serious breathing/lung blood-pressure problem. It may help doctors understand who is at higher risk and how to better identify affected babies early.
Milwaukee, WisconsinAges Up to 1 year - NCT02089789Recruiting
Study of inherited glycosylation disorders for diagnosis
This study helps doctors diagnose congenital (from birth) glycosylation disorders, which are inherited conditions that affect how the body builds certain sugar-related proteins. You (or your child) may have clinic visits, blood or other samples, and possibly genetic testing—especially if there are family members with a known or suspected condition.
Bethesda, MarylandAges 1 month–80 years - NCT01401998Recruiting
Study collecting information from people with ARPKD
This study looks at medical records, imaging, and genetic testing for people with autosomal recessive polycystic kidney disease (ARPKD). It may help researchers better understand the condition and how it affects the liver and kidneys.
Washington D.C., District of ColumbiaAges Up to 18 years - NCT00177268Recruiting
Collecting blood and tissue samples in skin diseases research
This study collects blood, urine, and possibly small tissue samples to learn more about cutaneous T-cell lymphoma (CTCL) and either eczema or atopic dermatitis. It may help researchers better understand these skin conditions and improve future treatments.
Pittsburgh, PennsylvaniaAges 18 years+ - NCT00055172Recruiting
Understanding Genetic Causes of Immune System Disorders
This research study investigates why some people have weak or poorly functioning immune systems. By studying you and your relatives, researchers hope to identify genetic factors that cause these conditions and eventually develop better treatments.
Bethesda, MarylandAges 6 months–99 years - NCT02097758Recruiting
3D heart ultrasound to guide a device closure for ASD
This trial looks at whether a special 3D ultrasound picture helps doctors safely place a small device to close an atrial septal defect (ASD), a hole in the heart’s upper chambers. If you need ASD closure and are suitable for a device, the results could help improve guidance and outcomes.
SeoulAges 18–80
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.