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
- NCT02993796Recruiting
Krabbe disease patient and family registry
This registry collects information from people who have Krabbe disease, people at risk, and close family members. It helps researchers learn more about the disease and support future studies.
Buffalo, New YorkAges Any age - NCT02683512Recruiting
Study of GBE deficiency in GSD IV and APBD
This study follows people with GBE deficiency caused by GSD IV or APBD to better understand how the condition works over time. It may help researchers and clinicians plan future care and treatments.
Durham, North CarolinaAges birth–90 years - NCT02886247Recruiting
Personal or family history of pancreatic tumors registry study
This study is building a registry (a secure list) of people who have had pancreatic tumors or have close family members who have had them. Your information can help researchers learn more and plan future studies for pancreatic cancer.
Baltimore, MarylandAges 18 years+ - NCT02702869Enrolling by invitation
Study of improving care for common facial clefts
This trial is part of a quality-improvement and research program for people with typical facial clefts. It aims to help improve how care is organized and measured across treatment centers, which may benefit future patients and help your team deliver coordinated care.
Gainesville, FloridaAges 1 day–22 years - NCT02675959RecruitingPhase 2
Transplant with defibrotide for sickle cell disease
This trial tests a stem cell transplant from a half-matched donor using a strong conditioning regimen and a drug called defibrotide to protect organs. It aims to cure sickle cell disease in patients who have had serious complications like stroke, chest syndrome, or frequent pain episodes.
Los Angeles, CaliforniaAges 6 months–21 years - NCT02995538Recruiting
Registry for people with suspected genetic nerve disorders
This registry collects health and family history from people who may have an inherited (genetic) neurological condition. It helps researchers understand what genetic causes are involved and may lead to better future care.
Pittsburgh, PennsylvaniaAges Any age - NCT02964494Recruiting
Congenital anemia registry for congenital dyserythropoietic anemia
This study is a registry that collects medical and lab information from people with congenital dyserythropoietic anemia (CDA), a lifelong type of anemia that can cause jaundice. It helps doctors better understand the condition and its causes, including in families where it runs.
Cincinnati, OhioAges Any age - NCT02720679Recruiting
Study genetics behind blood disorders in children and families
This study looks at genetic (DNA) factors that may contribute to certain blood disorders. You may be invited if you or a close family member is receiving care for a blood condition like MDS or MPN, and the study also includes related relatives.
Memphis, TennesseeAges Any age - NCT02863172Recruiting
Genetic studies in families with inherited colon cancer
This study looks at genetic reasons some families get colon cancer due to inherited (run-in-the-family) syndromes. It may help doctors better understand risk and tailor care for you or your relatives.
Houston, TexasAges 18 years+ - NCT02918032Recruiting
Registry study for triglyceride storage heart and blood vessel disease
This is a registry study that collects health information from people diagnosed with neutral lipid storage disease (NLSD) or triglyceride deposit cardiomyovasculopathy (TGCV). It may help researchers better understand the condition and improve future care plans.
Stanford, CaliforniaAges Any age - NCT02824471Recruiting
Testing a chip technology for sickle cell samples
This trial tests a “biochip” device using samples from people with sickle cell disease. If it works, it may help doctors study sickle cell biology more accurately using patient samples.
Cleveland, OhioAges 12 years+ - NCT02743845Recruiting
Find genetic answers for rare, possibly inherited conditions
This trial looks for gene changes that may explain rare conditions, even when the diagnosis is not fully understood. It may help families who have a rare condition or who are related to someone with one.
Boston, MassachusettsAges Any age - NCT02936791Recruiting
Study of early inherited kidney cysts and healthy volunteers
This observational study follows people early in autosomal dominant polycystic kidney disease (ADPKD) and also some healthy volunteers to learn how the kidneys work over time. It may help researchers understand early changes, which could guide future treatments.
Chicago, IllinoisAges 4–35 - NCT02774746Recruiting
Study of delivery outcomes in babies with gastroschisis
This study follows pregnancies and newborn outcomes for babies diagnosed with gastroschisis (an opening in the baby’s belly present before birth). It aims to understand what delivery and early care lead to better outcomes for these babies.
Phoenix, ArizonaAges 18 years+ - NCT02691689Recruiting
Genetics study in families with congenital heart defects and PAH
This study looks at genes that may contribute to pulmonary arterial hypertension (PAH) in people born with certain heart “shunts” (holes between heart chambers). If you have (or your family has) ASD or VSD and PAH confirmed by a heart pressure test, you may be invited to share genetic and health information to help researchers understand risk and better target future care.
LeuvenAges 18 years+ - NCT02958462Recruiting
Clinic study for early blood or bone marrow warning signs
This study follows people who may have early, unclear blood count problems or certain genetic/immune patterns that can later lead to bone marrow failure or blood cancers. It may help doctors better understand risks over time and guide earlier care.
Scottsdale, ArizonaAges 18 years+ - NCT02693548Recruiting
Study of families with familial high cholesterol
This is a study that follows people with a genetic form of very high cholesterol (familial hypercholesterolemia) and their close relatives. It aims to better understand this condition in real families and how it affects health over time.
Madrid, MadridAges 15 years+ - NCT02735824Recruiting
Genetic study of immune problems in children
This study looks for new genetic causes of immune system conditions that can run in families. If you join, researchers will collect health information (and usually samples) from children with immune concerns and from close relatives for comparison.
Zurich, Canton of ZurichAges Any age - NCT02780297Recruiting
Study of rare stone-causing kidney conditions
This study is for people with certain rare kidney conditions that can cause kidney stones. It aims to learn how these conditions behave over time and may help improve future care.
Birmingham, AlabamaAges Any age - NCT02740868RecruitingPhase 2
Breathing MRI using xenon gas to study lungs
This trial uses a special breathing MRI (you breathe a gas mixture) to measure how well your lungs work. It studies healthy kids and people with lung conditions like cystic fibrosis or asthma, and it may help researchers better understand lung function and flare-ups.
Toronto, OntarioAges 8 years+ - NCT02855476Recruiting
Collecting spinal fluid samples to help Huntington’s research
This study gathers small samples of spinal fluid from people affected by Huntington’s disease. Researchers use these samples to better understand the disease and support future treatments. If you join, you’ll need to follow their sample and visit schedule.
Englewood, ColoradoAges 11–75 - NCT02617966Recruiting
Test of how rod and cone vision work in eye disease
This study measures how your eyes use two types of light-sensing cells (rods for dim light and cones for clearer detail). It may help researchers better understand retinal (retina) diseases and how well vision is functioning.
Bethesda, MarylandAges 5–100 - NCT02450851Recruiting
Find answers for undiagnosed medical conditions using genetic testing
This study helps look for causes of health problems when no one has been able to give a diagnosis. It tests and shares medical and genetic information (with privacy protections) so researchers can better match findings to possible causes.
Birmingham, AlabamaAges 1 month–100 years - NCT02471287Recruiting
Genetics study for inherited eye conditions
This study looks at genes in people with inherited eye conditions and in close family members who may or may not have the condition. It helps researchers understand what causes these eye diseases and how they might be better studied in the future.
Bethesda, MarylandAges 1–120
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.