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
- NCT05158049Enrolling by invitation
Study of bionic eye outcomes over time
This study follows people who already have an implanted bionic eye device to see how they do over time. It may help researchers understand what to expect day to day and guide future care.
Melbourne E., VictoriaAges Any age - NCT05136859Recruiting
Predicting fistula success with blood tests and vessel checks
This study looks at whether blood markers and the condition of your blood vessels before surgery can predict how well a new dialysis access (fistula) will work. It aims to help doctors identify patients who may need extra care to ensure their fistula matures properly.
TaipeiAges 20 years+ - NCT05139797Recruiting
AI-guided heart ultrasound screening for suspected amyloidosis
This study tests whether an artificial-intelligence system can help decide who should get a special heart workup for a rare disease called cardiac amyloidosis. If you have signs that make doctors suspect this, the AI-guided ultrasound screening may help find it sooner.
Los Angeles, CaliforniaAges 18 years+ - NCT03303716Recruiting
Study of the health history of people with ASXL disorders
This study looks at your medical history and health changes over time in people diagnosed with an ASXL-related disorder. It may help researchers better understand how these conditions progress and what needs to be measured in future treatments.
Los Angeles, CaliforniaAges Any age - NCT05098665Recruiting
Home monitoring to help prevent hospital stays for ATTR heart disease
This trial tests whether using home weight/health tracking can help people with ATTR cardiomyopathy avoid going to the hospital. It may help by catching fluid build-up or worsening earlier so treatment can be adjusted sooner.
London, LondonAges 18 years+ - NCT05130437RecruitingPhase 1/Phase 2
Follow-up study for an mRNA vaccine given before
This is a follow-up study for people who already received the mRNA-3927 vaccine in an earlier trial. It looks at how safe the treatment is over the long term and whether it continues to have benefit.
Los Angeles, CaliforniaAges 1 year+ - NCT05067868RecruitingPhase 4
Replagal for Fabry disease in children and adults in India
This trial studies Replagal (enzyme replacement therapy) for people with Fabry disease who have not used it before. It aims to see how the treatment works and how safely it can be used in children and adults.
KolkataAges Any age - NCT05122962Recruiting
MRI study of heart rhythm and exercise capacity after congenital surgery
This study looks at how blood flow and heart rhythm may affect exercise ability in people born with certain heart defects that have been repaired or treated. It uses a specialized heart MRI and ultrasound measurements to better understand these problems and their causes.
Rochester, MinnesotaAges 18 years+ - NCT05126810Recruiting
Standard versus personalized counseling for TP53 test results
This trial compares standard genetic counseling with a more personalized approach for people considering or receiving TP53 genetic testing. It may help by seeing which counseling style better supports you before and after testing for a TP53 inherited change.
Houston, TexasAges Any age - NCT05133245Enrolling by invitation
Study of genes in people with PHACE syndrome
This study looks at genetic (DNA) differences in people who have PHACE syndrome. It also includes an eye exam, and results may help doctors better understand the condition.
Nashville, TennesseeAges Any age - NCT05101746Enrolling by invitationPhase 2/Phase 3
Nitric oxide to protect brain and kidneys in babies during heart surgery
This trial studies whether giving nitric oxide during heart-lung bypass surgery can help protect a baby’s brain and kidneys. If you qualify, the study team will check outcomes after surgery to see if benefits happen compared with usual care.
Nashville, TennesseeAges birth–1 year - NCT05102916Recruiting
Registry for neuromuscular disorder patients in Switzerland
This study is a patient registry that collects health information from people diagnosed with a neuromuscular disorder in Switzerland. It helps researchers better understand these conditions and how they vary from person to person.
Aarau, Canton of AargauAges birth+ - NCT05100420Recruiting
HCM registry and DNA/imaging data collection study
This study collects health records, heart ultrasound (echo), MRI images, and optional DNA testing for people with hypertrophic cardiomyopathy (HCM). It aims to build a large database to better understand HCM and support future research and care.
Edmonton, AlbertaAges Any age - NCT05071222RecruitingPhase 1/Phase 2
Gene therapy trial for Artemis SCID using modified blood cells
This trial tests whether gene therapy can safely and effectively treat children with a specific type of severe combined immunodeficiency (SCID) caused by an Artemis gene problem. It uses the patient’s own stem cells, modifies them to add a missing gene, and then returns them after chemotherapy to help the new cells work.
ParisAges Up to 3.9 years - NCT05109936RecruitingPhase 3
Febuxostat given right away versus later for gout flare
This Phase 3 study compares starting febuxostat immediately during a gout flare versus delaying the start. It aims to see which timing helps control gout better and safely.
CaenAges 18 years+ - NCT05072626Recruiting
Special fat formula for babies after biliary atresia surgery
This trial tests whether a special nutritional support formula rich in medium-chain fats can help infants with biliary atresia after the Kasai procedure. It may support feeding and liver recovery during the early months after surgery.
Shanghai, Shanghai MunicipalityAges Up to 3 months - NCT05104983RecruitingPhase 2
Sirolimus to prevent first seizures in babies with TSC
This Phase 2 study tests whether sirolimus (a targeted medicine) can stop or slow the start of seizures in very young babies diagnosed with tuberous sclerosis complex (TSC). If seizures are prevented early, it may also help protect early brain development.
Birmingham, AlabamaAges 1 day–6 months - 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+ - NCT04336644Recruiting
Checks heart rhythm continuously or intermittently during treatment
This study compares two ways of monitoring your heart rhythm while you start certain cancer treatments. It may help doctors detect heart rhythm changes earlier and decide which monitoring approach is better.
St Louis, MissouriAges 18 years+ - NCT05040373Recruiting
Patisiran pregnancy safety monitoring program
This program monitors the safety of the drug patisiran during pregnancy. If you have received patisiran around the time of pregnancy, it may help track any effects on you and your baby.
Iowa City, IowaAges Any age - NCT05066217RecruitingPhase 3
Study tests clemizole for Lennox-Gastaut seizures
This Phase 3 trial studies whether clemizole helps reduce seizures in people with Lennox-Gastaut syndrome (LGS) and checks safety. If you have LGS and meet the seizure and heart-safety requirements, this could be an option to explore.
Little Rock, ArkansasAges 2–55 - NCT05003986RecruitingPhase 2
Sparsentan for children with protein leaking kidney diseases
This Phase 2 study tests sparsentan in children with certain kidney diseases that cause high amounts of protein in the urine. It aims to see if the medicine can reduce kidney damage signals and protein leakage compared with standard care.
Los Angeles, CaliforniaAges 1–17 - NCT05047354Recruiting
Study cholesterol metabolism in rare genetic conditions
This study looks at body chemistry (cholesterol-related lab findings) and physical features in people with Smith-Lemli-Opitz syndrome and related rare genetic cholesterol disorders. It may help researchers better understand these conditions and how they affect the body.
Bethesda, MarylandAges 1 day–100 years - NCT05031507Recruiting
Study of bone disorders and inherited genetic factors
This study looks at bone (skeletal) disorders to better understand possible genetic causes, especially when phosphate levels or bone growth are affected. You may join either if you (or your child) has a bone disorder, or if you’re an unaffected family member who might help compare results.
Bethesda, MarylandAges 2 months–100 years
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.