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
- NCT02910180Recruiting
Biobank study of genetic and metabolic data in brain blood vessel disease
This study collects genetic and other health information from people with brain blood vessel (cerebrovascular) problems. It aims to help researchers understand causes and patterns that could lead to better care in the future.
Los Angeles, CaliforniaAges 18 years+ - NCT02824822Recruiting
Genetic test study for heart rhythm risk in people with seizures
This study checks whether genetic markers are linked to heart rhythm problems in people with epilepsy or seizure-related events, and in some close relatives. It may help doctors better spot who is at risk for dangerous heart rhythm issues.
Rochester, MinnesotaAges 18–50 - NCT02638389RecruitingPhase 3
Sirolimus for hard-to-treat vascular birthmarks
This Phase 3 study tests whether sirolimus helps control complex vascular anomalies that have not responded to standard treatments. It also checks safety by monitoring blood tests, organ function, and overall health during treatment.
Brussels, Brussels CapitalAges 3 months–70 years - NCT02445534Recruiting
Registry for cell therapy in non-ischemic dilated heart muscle disease
This is a research registry that follows people with non-ischemic dilated cardiomyopathy (a weakened heart muscle) who are already on the right medications. It helps doctors better understand how cell-based therapy and related care affect heart function over time.
LjubljanaAges 18–65 - NCT02592291Recruiting
Using a phone app to help manage long-term health needs
This study tests a mobile phone system that helps people with long-term, complex health conditions manage daily life and get support. If you can use a smartphone and pass the study checks, you may be able to try the self-management tools.
Pittsburgh, PennsylvaniaAges 12 years+ - NCT02781922RecruitingPhase 3
Stem cell infusion for single-ventricle heart failure during surgery
This trial tests whether an infusion of heart stem/progenitor cells can improve outcomes for children with a single working heart chamber (single ventricle) who are scheduled for the next surgical stage (Glenn or Fontan). It may help the heart function after surgery, but participation depends on several heart, lung, brain, and overall health safety criteria.
KanagawaAges birth–6 years - NCT02365246RecruitingPhase 2
Test IgE immune-filter treatment for severe eczema
This Phase 2 study tests a treatment called IgE-specific immunoadsorption, which works by filtering certain immune signals in the blood. It is meant for adults with severe, long-lasting eczema that has not responded well (or could not be tolerated) to standard treatments.
LeuvenAges 18–70 - NCT02530073Recruiting
FETO procedure for babies with isolated left diaphragmatic hernia
This trial studies a fetal procedure (FETO) that temporarily blocks the baby’s windpipe to help lung growth before birth. It may help babies with severe lung underdevelopment from an isolated left diaphragmatic hernia (CDH) who meet specific pregnancy and fetal criteria.
Hartford, ConnecticutAges 18 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 - NCT02257229Recruiting
Study for treating clubfoot in Spanish-speaking patients
This study looks at treatment for children with clubfoot (a foot that turns inward or upward). If you speak Spanish, the study may be easier to join and could help doctors improve how clubfoot is treated.
Dallas, TexasAges Up to 18 years - NCT02864108Recruiting
Study of Trisomy in people with and without Down syndrome
This study includes people of many ages to help researchers learn more about Trisomy (an extra chromosome condition) in those with and without Down syndrome. It may help improve understanding and future care for people affected by chromosome differences.
Denver, ColoradoAges 6 months–89 years - NCT02235623Recruiting
Testing a specific surgery for an undescended testicle
This trial studies a surgery approach (Fowler-Stephens orchiopexy) for boys whose testicle is found higher in the abdomen during a camera procedure. It may help doctors choose the best technique to move the testicle into the scrotum.
Boston, MassachusettsAges 4 months–3 years - NCT02306200Recruiting
A study to improve heart and aorta health
This trial looks at ways to improve cardiovascular (heart and blood vessel) health, especially conditions that affect the aorta, such as aneurysms, or vascular problems that may run in families. If you have an aortic-related or other cardiovascular diagnosis (or you’re a healthy comparison participant), you may be invited to take part in this health-improvement program.
Ann Arbor, MichiganAges Any age - NCT02266615Recruiting
Biobank for genetic testing in new clinic patients
This trial collects body samples from new patients so doctors can run genetic tests and better understand inherited conditions. You might join if you are visiting the clinical genetics clinic for the first time and your sample is needed for genetic diagnostics.
Maastricht, LimburgAges Any age - NCT02716246RecruitingPhase 2/Phase 3
Gene therapy for MPS IIIA to slow brain decline
This trial tests a gene-transfer treatment (delivered into the spinal fluid) for children with MPS IIIA, a rare genetic condition. It aims to improve or slow down brain and developmental changes caused by a missing enzyme.
Columbus, OhioAges Any age - NCT02597881Recruiting
Study of achondroplasia health changes over time
This study follows people with achondroplasia to better understand what medical issues happen over time. It may help doctors plan care and recognize patterns earlier.
Baltimore, MarylandAges Any age - NCT02302742Recruiting
Registry for triple-negative breast cancer and inherited mutation carriers
This registry studies people with triple-negative breast cancer or inherited “HBOC” gene mutations (like BRCA, PALB2, PTEN, TP53). It collects information to better understand risk, outcomes, and how these cancers behave—helping future research and care.
Hays, KansasAges Any age - NCT02420067Recruiting
Screening for inner-ear tumors in people with Von Hippel-Lindau
This trial focuses on checking whether a specific inner-ear tumor (called an endolymphatic sac tumor) can be found earlier in people with Von Hippel-Lindau (vHL) disease. It may help doctors detect problems sooner so you can discuss treatment options earlier, if needed.
Copenhagen, Copenhagen NAges 15 years+ - NCT02912143Recruiting
Hemophilia pediatric research registry database
This trial is a research registry that enrolls children with hemophilia A or B to collect health information. It may help researchers better understand bleeding risk and treatment needs over time.
Frankfurt am Main, HesseAges Up to 18 years - NCT02378805Recruiting
Alport syndrome registry to help delay kidney failure
This is a registry that collects information from people with Alport syndrome to better understand the disease and how to delay kidney failure. It may help researchers learn which factors and treatments are most important over time.
Göttingen, Lower SaxonyAges Any age - NCT02398786Recruiting
Join a family registry for myotonic dystrophy (DM1 or DM2)
This study builds a registry of people and families affected by myotonic dystrophy types 1 and 2. It helps researchers learn about the condition over time and may support future studies that could lead to better care.
Oakland, CaliforniaAges Any age - 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+ - NCT02748408Recruiting
Long-term follow-up after total hip replacement for severe hip pain
This study tracks people for many years after they get their first total hip replacement due to severe hip problems. It helps doctors understand how well the implant works and how patients recover over time.
ViennaAges 18–75 - NCT02497534Recruiting
Biomarker testing study for Friedreich’s ataxia
This study looks at “biomarkers” (measurable signs in the body, like test results from blood or other checks) in people with Friedreich’s ataxia. It may help researchers understand the disease better and track changes over time.
Gainesville, FloridaAges 6–70
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.