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
- NCT02647827RecruitingPhase 2
Acupuncture or metformin for insulin resistance in PCOS
This study tests whether acupuncture or the diabetes medicine metformin can improve insulin resistance in women with PCOS. It may help with hormone-related symptoms and metabolic health, comparing the two approaches against usual care for non-PCOS controls.
BeijingAges 18–40 - NCT02639312Recruiting
Study of how craniofacial differences develop over time
This study follows children and adults with craniofacial (head/face) differences to learn how their growth changes over time. It also enrolls unaffected family members and healthy volunteers to compare what is “typical,” using scans and optional genetic testing.
Bethesda, MarylandAges 2–100 - NCT02650622Recruiting
Study of genetic and metabolic diseases in children
This study looks at children who may have genetic (inherited) or metabolic (body chemistry) problems, including newborn screening and episodes of trouble. The goal is to better understand these conditions and identify children who may benefit from further care.
Dallas, TexasAges 1 day+ - 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.
MadridAges 15 years+ - 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 - NCT02705846Recruiting
Study tracks outcomes in men with inherited prostate cancer risks
This study looks at how prostate cancer diagnoses and treatments turn out over time. It compares men who carry rare inherited gene changes that raise prostate cancer risk with men who do not, to better understand which treatments and outcomes may differ.
Sutton, SurreyAges 18 years+ - NCT02744365Recruiting
Pregnancy complications biobank for future research
This study collects pregnancy-related samples and health information to help researchers learn more about conditions like preeclampsia and prematurity. Your participation may help future studies, but it usually involves whether you can safely consent and whether the pregnancy is continuing at the time of recruitment.
QuébecAges 18 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+ - NCT02775461Recruiting
Registry for people at high risk for pancreatic cancer
This study is a registry (a way to track health over time) for people with a strong family history or certain inherited genetic risks for pancreatic cancer. It may help doctors learn how best to monitor and protect high-risk people, and to see who benefits most from follow-up.
New York, New YorkAges 18 years+ - NCT02890641Recruiting
Study of brain signals and genes in hard-to-treat epilepsy
This study looks at genetic factors and brain electrical activity in children whose seizures are difficult to control with standard medicines. It also involves exams like MRI and possibly procedures under anesthesia, to better understand seizure causes and help future care.
ParisAges 3 months–25 years - NCT02917460Recruiting
Join a children’s genomic sample and data library
This study collects and stores DNA samples and related health information from people of all ages. It helps researchers understand childhood diseases better and may support future discoveries and treatments.
San Diego, CaliforniaAges Any age - NCT02935283Recruiting
MRI brain and thinking tests in urea cycle disorders
This study uses MRI scans and memory/thinking tests to understand brain effects of urea cycle disorders, like ornithine transcarbamylase deficiency (OTCD) and argininosuccinate (ASSD/ASLD). It may help researchers understand how brain function changes during and between metabolic crises.
Washington D.C., District of ColumbiaAges 7–50 - NCT03209583Recruiting
Test of fast-pacing therapy for congenital heart rhythm issues
This trial studies whether a device-based fast pacing therapy (called ATP) can better treat certain rapid heart rhythm problems in people born with a heart condition. It may help prevent or reduce episodes of atrial (upper-chamber) arrhythmias that occur despite having a pacing/defibrillator device.
Los Angeles, CaliforniaAges Any age - NCT03336008Recruiting
Registry for certain inherited spinocerebellar ataxias
This study is a registry that collects information from adults with certain types of inherited ataxia caused by specific genetic diagnoses. It may help doctors better understand these conditions and support future research.
Hong Kong, ShatinAges 18–90 - NCT03334292Recruiting
Study of the natural course of Wilson disease
This study follows people who already have Wilson disease to understand how the condition changes over time. It may help researchers better predict future symptoms and improve care.
New Haven, ConnecticutAges Any age - NCT03358693Recruiting
Study of inflammation patterns in chronic skin diseases
This study looks at molecular (body-level) signatures in people with chronic inflammatory skin conditions. You may help researchers understand what drives inflammation, while receiving standard (already approved) systemic treatment through routine care.
KielAges Any age - NCT02923440Recruiting
Donate DNA and help build a congenital heart study database
This study creates a DNA bank and a French database for babies and children with certain types of congenital heart defects, to better understand genetic causes. You’ll be asked to have a blood test and share consent, even though care can continue as usual at the study hospital.
MarseilleAges Any age - NCT03161808Recruiting
CF rare mutation blood and tissue sample collection study
This study collects cells from people with cystic fibrosis (CF) caused by rare CFTR gene changes. The goal is to build a cell bank for future research, which may help scientists develop better tests and treatments for rare CF types.
Birmingham, AlabamaAges 17 years+ - NCT03291392Recruiting
CUHK stroke biobank for blood, fluid, and tissue samples
This study builds a research bank using samples from people with stroke, their family members, and some people without narrowing in their blood vessels. Your samples help researchers study stroke and related brain and vessel changes.
Hong KongAges 18 years+ - NCT03325946Recruiting
Neuromotor research clinic for people with movement problems
This study is looking at people who have difficulties with movement or muscle control (neuromotor impairment). It may help researchers better understand these problems and improve future care.
Roanoke, VirginiaAges 3 months–18 years - NCT02986087Recruiting
FETO balloon procedure for severe congenital diaphragmatic hernia
This trial studies a fetal procedure called FETO (placing a small balloon in the baby’s windpipe) to help severe congenital diaphragmatic hernia babies develop better lungs before birth. It may help some babies whose scans suggest very limited lung growth, but it requires specific timing and pregnancy conditions.
Cincinnati, OhioAges 18–50 - NCT03056794Recruiting
Study of genetic and natural history of PDC deficiency
This study looks at how pyruvate dehydrogenase complex (PDC) deficiency affects people over time and what genes are involved. It mainly helps by building genetic and health data, which may improve future care and understanding of the condition.
Pittsburgh, PennsylvaniaAges Any age - NCT02998710Recruiting
Natural history study for homocystinuria due to CBS deficiency
This study mainly observes what happens in people with homocystinuria caused by a CBS gene deficiency over time. It helps doctors better understand the condition’s natural course and may guide future treatments.
Culver City, CaliforniaAges 1–65 - NCT03362164Recruiting
Studying heart involvement in people with Fabry disease
This study looks at how the heart is affected in adults with Fabry disease. It may help doctors better understand heart-related changes in order to guide care.
Würzburg, BavariaAges 18 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.