Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,859 recruiting studies in this area right now.
By phase
- Not applicable2,773
- Phase 2283
- Phase 1236
- Phase 3215
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis128
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- 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
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,859 total
- NCT04469439Recruiting
Sinus surgery in adults with cystic fibrosis
This study looks at how endoscopic sinus surgery affects people with cystic fibrosis who have ongoing sinus problems even after medical treatments. It may help doctors understand whether surgery plus ongoing care improves symptoms and quality of life.
Los Angeles, CaliforniaAges 18–99 - NCT04469517Recruiting
Study of low-oxygen factors in hereditary bleeding disorder
This study looks at how “low-oxygen” signals may affect people with hereditary hemorrhagic telangiectasia (HHT), a genetic bleeding disorder. It may help researchers understand what drives symptoms and could guide future treatments.
Essen, North Rhine-WestphaliaAges 18 years+ - NCT04475510Recruiting
Stop blood-thinner therapy after PFO closure in younger stroke patients
This trial tests whether it’s safe to stop antithrombotic (blood-thinner) treatment after a successful hole-in-the-heart procedure (PFO closure) in people age 60 and under who had an unexplained stroke or TIA. It may help some people avoid long-term blood-thinner side effects if their risk stays low.
Québec, QuebecAges 18–60 - NCT04477863Recruiting
Follow-up study for people who had genetic testing in embryos
This trial follows up with people who chose to participate in research when getting preimplantation genetic testing (testing genes in embryos). It may help researchers understand outcomes and improve future genetic testing and counseling.
North Brunswick, New JerseyAges Any age - NCT04478409Recruiting
Test to screen Mediterranean family fever in children and adults
This study checks how well a specific blood test works for people who may have Mediterranean family fever (FMF). It may help doctors recognize FMF more accurately and decide on follow-up and treatment.
BronAges 4 years+ - NCT04478734RecruitingPhase 2
Thiamine plus biotin for Huntington’s disease symptoms
This Phase 2 study tests whether taking thiamine and biotin together can improve symptoms in people with Huntington’s disease. It looks especially at people with confirmed genetic Huntington’s disease and certain types of movement and/or mood symptoms.
San Sebastián, San SebastianAges 18 years+ - NCT04485871Recruiting
Omega-3 supplements to lower diabetes risk in at-risk adults
This trial tests whether taking omega-3 fatty acids can reduce risk factors for developing diabetes in people with normal cholesterol but other risk factors. You might be asked to follow study visits and dietary/health restrictions for about 33 weeks.
Montreal, QuebecAges 45–74 - NCT04507997Recruiting
Study of the natural course of Angelman syndrome
This study follows people with Angelman syndrome to understand how their symptoms and development change over time. It may help researchers better describe the condition and support future treatments.
Los Angeles, CaliforniaAges Any age - NCT04522193Recruiting
Testing causes of dumping symptoms after esophagus repair
This study looks at how sugars move and how “dumping” symptoms happen in babies after surgery for an esophagus problem. It may help doctors understand what causes these symptoms and how to monitor them safely.
LilleAges 2 months–3 months - NCT04528355Recruiting
Study of hospital data after stem cell transplant for non-cancer illness
This study collects medical information from people with certain non-cancer conditions who receive a stem cell transplant. It may help doctors better understand transplant outcomes and care, since the study focuses on data collection rather than adding new treatment.
Pittsburgh, PennsylvaniaAges 2 months–60 years - NCT04528082RecruitingPhase 3
Apremilast for children with frequent mouth ulcers from Behçet’s disease
This study tests apremilast to help reduce active, recurring mouth (oral) ulcers in children with Behçet’s disease. It may help if your child has had repeated mouth ulcers despite at least one non-biologic treatment.
BronAges 2–17 - NCT04528498Recruiting
Embryo health study for IVF using PGT-A testing
This study looks at embryo health using a DNA test called PGT-A for couples having IVF. It may help researchers better understand what the test can and cannot tell about which embryos are healthiest.
North Brunswick, New JerseyAges 18 years+ - NCT04530383RecruitingPhase 2
Metformin add-on for adult cystic-fibrosis related diabetes on CF meds
This trial tests whether adding metformin can improve blood-sugar control and related lung cell function in adults who have cystic-fibrosis–related diabetes (CFRD) and are already taking CFTR modulator therapy. It may help if your diabetes is still not well controlled despite those CF medicines.
Kansas City, KansasAges 18 years+ - NCT04529967Recruiting
Screening kids for inherited high cholesterol
This study checks children ages 1 to 3 during routine care to see who may have familial hypercholesterolemia, a genetic condition that causes high cholesterol. Early identification can help families learn about next steps and prevention.
Hefei, AnhuiAges 1–3 - NCT04532047RecruitingPhase 1
Fetal enzyme therapy trial for certain inherited storage disorders
This Phase 1 trial tests an enzyme replacement treatment given to a developing baby before birth for specific inherited “lysosomal storage” diseases. The goal is to see if the treatment is safe and can improve outcomes for babies diagnosed in pregnancy.
San Francisco, CaliforniaAges 18–50 - NCT04531696Recruiting
Post-death breast tissue donation study for cancer research
This trial invites adults with certain breast cancer conditions to donate tissue after death. Researchers hope the donated samples will help better understand cancer and improve future treatments.
LeuvenAges 18 years+ - NCT04535349Recruiting
Imaging heart uptake of bone tracer in ATTR amyloidosis
This study uses special imaging tracers to see how much they build up in the heart in people with cardiac transthyretin (ATTR) amyloidosis. It may help researchers better measure disease activity and understand who benefits from treatments like tafamidis.
CaenAges 18–100 - NCT04541654Recruiting
Study of families with TP53 gene changes in Li-Fraumeni syndrome
This study is looking at how people in families with certain TP53 gene changes (including Li-Fraumeni syndrome) develop health problems over time. It may help doctors better understand risk and improve care for affected families.
Boston, MassachusettsAges Any age - NCT04561518Recruiting
Study of people with TTR amyloidosis worldwide
This is an observational study (no study drug) for people with transthyretin (TTR)–mediated amyloidosis, including people who carry certain gene changes before symptoms begin. It may help researchers better understand how the disease affects health over time and what to measure in future treatments.
La Jolla, CaliforniaAges Any age - NCT04561557RecruitingEarly Phase 1
Cell therapy for relapsing nervous system autoimmune diseases
This early-phase trial tests CT103A “CAR-T” cell therapy to treat certain relapsing or treatment-resistant autoimmune diseases that affect the nervous system. It aims to see whether the cells are safe and may help reduce disease activity when standard treatments haven’t controlled symptoms.
Wuhan, HubeiAges 18–75 - NCT04567511RecruitingPhase 4
Hemlibra for mild hemophilia A patients
This trial studies Hemlibra (emicizumab) in people with mild congenital hemophilia A to see how well it works and what safety issues may occur. It may help reduce bleeding in patients who meet the study’s specific health and safety requirements.
Indianapolis, IndianaAges 5–45 - NCT04569162Recruiting
RCDP patient registry for children with related genetic conditions
This trial is a registry that collects medical and genetic information from people with rhizomelic chondrodysplasia punctata (RCDP) or closely related conditions. It helps researchers better understand the condition and plan future studies that could lead to better care.
Wilmington, DelawareAges Any age - NCT04571658Recruiting
NEPTUNE Match study linking you to possible kidney research trials
This study is an add-on process that uses information from the NEPTUNE kidney study to see whether you might be able to join other kidney research trials. It may help connect eligible people with appropriate new treatment studies when they become available.
Atlanta, GeorgiaAges 1–80 - NCT04573660Recruiting
Registry for people using Abbott vascular devices
This is a patient registry that collects health information from adults who get Abbott vascular devices during a planned procedure. It helps Abbott and doctors understand how these devices perform in everyday care.
Birmingham, AlabamaAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,859 recruiting medical genetics studies from the U.S. registry right now, out of 5,745 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.