Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,756 recruiting studies in this area right now.
By phase
- Not applicable2,677
- Phase 2277
- Phase 1238
- Phase 3210
- Phase 1/Phase 2208
- Phase 497
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis125
- Congenital Heart Disease84
- Cystic Fibrosis76
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- Duchenne Muscular Dystrophy37
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)28
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
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
- Massachusetts General Hospital22
Where studies are running
- California325
- Maryland161
- Alabama133
- Massachusetts107
- Arizona86
- New York85
- Texas70
- Minnesota68
- Pennsylvania62
- Florida59
Recruiting studies3,756 total
- NCT05501587Recruiting
Respiratory Health Registry measuring lung function in different groups
This registry study collects information and measures lung function to better understand respiratory health across people with cystic fibrosis, other lung diseases, and healthy volunteers. Your results may help researchers track lung health and improve future research and care.
Vancouver, British ColumbiaAges birth–99 years - NCT03206190Recruiting
Study for early SPG4 symptoms in family members
This study looks at people in families with a known SPG4 gene change (a SPAST mutation) to understand early, subtle signs and the beginning of symptoms. It may help researchers find better ways to detect SPG4 earlier, before full walking problems start.
TübingenAges 18–70 - NCT02852928Recruiting
ChILD-EU registry for childhood lung disease samples
This trial builds a European “registry and biobank” of children with suspected or confirmed interstitial lung disease (a type of lung problem), as well as conditions that can look similar. It helps researchers learn more about these rare childhood lung diseases and connect families to future studies.
Hanover, Lower SaxonyAges Any age - NCT05563376Recruiting
Clinic visit for people with Fontan heart circulation
This study is for people born with a single-ventricle heart condition who now live with a Fontan circulation. It mainly focuses on having a dedicated clinic visit (“Fontan clinic session”) and checking how that care works for you.
ErlangenAges 6–60 - NCT05495776Recruiting
Study checks how often Lynch syndrome happens in colon cancer
This registry study looks at how many people with colon cancer also have Lynch syndrome, an inherited condition that can affect cancer risk. If you enroll, your care team collects basic information from your diagnosis to better estimate how common it is.
MoscowAges 18 years+ - NCT04990297Recruiting
MRI test to better predict risk in dilated heart muscle
This trial uses a heart MRI to measure details in people with dilated cardiomyopathy and reduced pumping strength. It aims to use these MRI findings to better predict your future heart risk and guide care.
Beijing, Beijing MunicipalityAges Any age - NCT02208869Recruiting
Registry for inherited high cholesterol (familial hypercholesterolemia)
This registry collects information from people with inherited high cholesterol to better understand the condition and care needs. You may be invited to share blood and medical test results, especially your cholesterol and related health history.
ChelyabinskAges 7–80 - NCT04903782Recruiting
Family whole-genome testing for children with newly diagnosed cancer
This study offers whole-genome testing (a way to read a person’s DNA) to families after a child is newly diagnosed with cancer. It aims to find inherited changes that may explain why cancer happened and guide future care or monitoring.
Newcastle, New South WalesAges Up to 21 years - NCT05478083RecruitingPhase 2
Leuprolide treatment for severe polycystic liver growth
This Phase 2 study tests whether a monthly hormone medicine (leuprolide, a GnRH agonist given as an injection) can slow down ongoing, fast-growing polycystic livers. It is aimed at pre-menopausal women with very large livers that are still getting bigger on past and current scans.
Nijmegen, GelderlandAges 18–45 - NCT04912843RecruitingPhase 2/Phase 3
Gene therapy for inherited optic nerve vision loss
This trial tests a gene therapy injection into the eye to improve vision in people with a specific type of inherited optic nerve disease called Leber’s hereditary optic neuropathy (LHON). It is aimed at people who have a particular genetic change and a history of vision loss lasting long enough to measure change, while checking for safety first.
BeijingAges 12–75 - NCT05620030Recruiting
Testing care plans for single-heart (univentricular) defects
This study follows people with a single-ventricle (univentricular) heart defect who need a multi-step treatment leading to the Fontan procedure. It aims to better understand how this staged care should be delivered and monitored over time.
ErlangenAges 6–60 - NCT04713800Recruiting
Dental implant bridge comparison with two implant types
This trial tests two ways of making a small back teeth bridge (a “cantilever” dental implant crown) using different materials. It may help show which material works best when replacing missing back teeth with implant support.
GenevaAges 22 years+ - NCT02419365Recruiting
PCD registry for people with suspected or confirmed ciliadisease
This registry collects information from people with primary ciliary dyskinesia (PCD), a condition that affects how the lungs and airways clear mucus. It helps researchers learn more about who has PCD, how it looks in real life, and any other health problems that may go along with it.
Münster, North Rhine-WestphaliaAges Any age - NCT05629130Recruiting
Blocking blood vessel procedures for bleeding-related joint inflammation
This study looks at whether a “blocking” procedure (embolization) can improve long-lasting joint inflammation caused by inherited bleeding disorders. It focuses on people with joint lining inflammation from repeated bleeding into the joint.
São PauloAges Any age - NCT05643872RecruitingPhase 3
Test gel QTORIN for adults with pachyonychia congenita
This Phase 3 study tests the safety and how the body absorbs (pharmacokinetics) of a rapamycin gel called QTORIN 3.9% in adults with pachyonychia congenita. It may help determine whether this gel is safe and works for people with this rare skin nail condition.
New Brighton, MinnesotaAges 16 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 - NCT03635645Recruiting
Testing stimulation in people with an implanted retinal prosthesis
This study looks at how retinal stimulation works for people who already have an Argus II retinal prosthesis implanted. It may help researchers understand how well the stimulation creates a visual perception and how reliably people can do the required testing.
Ann Arbor, MichiganAges 25–89 - NCT05651113Recruiting
Your experience during screening for SCID
This study looks at what it feels like for people to go through screening for SCID (a rare immune condition). It may help improve the screening process and support for patients and families.
LondonAges 18 years+ - NCT05674695Recruiting
Registry study for starting or switching atopic eczema medicines
This study follows people with atopic eczema when they start or switch to a specific medicine that affects the immune system. It helps doctors understand how these treatments work in real life, including for skin symptoms and daily quality of life.
Badalona, BarcelonaAges Any age - NCT04095195Recruiting
Pancreatic cancer risk registry for high-risk families
This study builds a registry of people with a higher-than-average risk of pancreatic cancer, based on family history or inherited gene conditions. If you join the extra imaging follow-up, it helps your care team monitor risk earlier.
Rozzano, MilanAges 18–80 - NCT05702203Recruiting
Music therapy for newborns with congenital heart disease
This trial tests whether creative music therapy can help newborn babies who have congenital heart disease (CHD) while they are in intensive care. It focuses on babies who are otherwise very young and in the NICU or PICU, regardless of CHD severity.
ZurichAges 1 minute–4 weeks - NCT04676048RecruitingPhase 1/Phase 2
Gene therapy study for adults with hemophilia A
This Phase 1/2 study tests a one-time gene therapy (ASC618) to help the body make clotting factor for people with hemophilia A. It may reduce bleeding and the need for factor infusions, but you must meet several safety and eligibility checks.
Little Rock, ArkansasAges 18 years+ - 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+ - NCT05236153Recruiting
Study of heart valve procedure in repaired Tetralogy of Fallot
This study looks at how a transcatheter pulmonary valve replacement works in people with repaired Tetralogy of Fallot or double outlet right ventricle. The goal is to better understand the heart’s anatomy and how it may affect the valve procedure.
Boston, MassachusettsAges Any age
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,756 recruiting medical genetics studies from the U.S. registry right now, out of 5,439 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.