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
- NCT06001827Recruiting
Study of a wrap to help new dialysis access points heal
This trial tests a special wrap placed around a new arm access point for dialysis (called an AV fistula) to see if it helps the access stay healthy and work better. It is for people who need a new AV fistula for kidney dialysis.
Bullhead City, ArizonaAges 18 years+ - NCT06003387RecruitingPhase 3
Gene therapy for hemophilia B with AAV5 antibodies
This trial tests a gene therapy called CSL222 for adults with hemophilia B who have antibodies against the AAV5 virus used to deliver the therapy. It aims to see if the treatment is safe and effective even when these antibodies are present.
San Diego, CaliforniaAges 18 years+ - NCT05987449RecruitingPhase 1/Phase 2
Study of NXT007 for people with hemophilia A
This study tests a new medicine called NXT007 for people with moderate or severe hemophilia A. The goal is to see if it is safe, well-tolerated, and can help prevent or reduce bleeding episodes, possibly reducing the need for standard treatments. You may be able to join if you have hemophilia A with or without inhibitors and meet other health requirements.
Sacramento, CaliforniaAges 2–59 - NCT05995964RecruitingPhase 2
Study of two new medicines for eczema
This study tests two new study medicines (PF-07275315 and PF-07264660) for people with moderate to severe eczema that hasn't responded well to other treatments, including biologics. The goal is to see if these medicines can help reduce itching and clear the skin.
Birmingham, AlabamaAges 18 years+ - NCT05985486Recruiting
Lifestyle change for brain health in Down syndrome
This study looks at how a healthy lifestyle program can improve brain health in adults with Down syndrome who are overweight or obese. You will attend a medical center three times over a year for tests, and you'll need a caregiver to support you.
Kansas City, KansasAges 18–64 - NCT05985161RecruitingPhase 2
Selinexor for wilms tumor and other solid tumors
This trial tests a drug called selinexor for children and young adults with certain types of solid tumors (like Wilms tumor, rhabdoid tumors, MPNST, or others with specific genetic changes) that have come back or not responded to standard treatment. Participants take selinexor pills to see if it can shrink or control their cancer.
Los Angeles, CaliforniaAges 1 year+ - NCT06000761Recruiting
Mouth care with human milk for premature babies
This trial is testing whether giving gentle mouth care with human milk to very premature babies in the NICU can help their health. It focuses on babies born early and with low birth weight whose mothers can provide milk.
Gainesville, FloridaAges 1 hour–3 days - NCT05994976Recruiting
Collecting skin samples from people with skin conditions
This study collects skin samples (like small biopsies or swabs) from people with certain skin conditions and from healthy volunteers. The samples help researchers learn more about these conditions and may lead to better treatments.
Montreal, QuebecAges 18 years+ - NCT05998629Recruiting
Sweat sensor test for cystic fibrosis
This trial tests a new skin sensor that measures sweat to help diagnose cystic fibrosis. It compares results from people with CF and healthy volunteers to see if the device works accurately.
Hershey, PennsylvaniaAges 18–80 - NCT05995171Recruiting
Long-term health in teens born with esophageal atresia
This study looks at teenagers born with esophageal atresia (a birth defect where the esophagus doesn't connect to the stomach) to see how they are doing in the long term. It uses special tests to understand health patterns and may help improve care for others with this condition.
Lille, NordAges 13–14 - NCT05979506Recruiting
Wraps for skin comfort in hereditary ichthyosis
This study tests whether special body wraps can reduce skin discomfort for people with hereditary ichthyosis, a condition that causes dry, scaly skin. If you have ichthyosis and are bothered by skin tightness or itching, this treatment might help you feel better.
ToulouseAges 15 years+ - NCT05982795Recruiting
How CF modulators affect lung bacteria
This study looks at how highly effective CF modulator therapies change the bacteria living in the lungs of people with cystic fibrosis. Understanding these changes may help improve future treatments.
Lebanon, New HampshireAges 18–99 - NCT05990179Recruiting
Screening newborns for rare diseases using genetics
This trial offers free genetic screening for rare diseases in newborns. It aims to find health conditions early so babies can get the right care sooner.
New York, New YorkAges 1 day–1 month - NCT05981664Recruiting
Can adaptive gaming help kids with arm differences?
This study explores whether playing video games with adapted controls can help children aged 7 to 17 who have a missing or different arm or hand. It tests how fun and useful these games are for improving movement and daily life.
Winnipeg, ManitobaAges 7–17 - NCT05992532Recruiting
Study of rare enzyme disorders in monoclonal gammopathy or myeloma
This study looks for two rare inherited disorders—Gaucher disease and acid sphingomyelinase deficiency (ASMD)—in people who already have a blood condition like monoclonal gammopathy (abnormal protein) or multiple myeloma. If you have an enlarged spleen or low platelets, you may be eligible to help researchers understand if these rare diseases are more common in this group.
Vitoria-Gasteiz, AlavaAges 18–99 - NCT05983159RecruitingPhase 2
Targeted therapy for slow-flow or fast-flow vascular malformations
This trial tests two targeted medicines for people with certain types of vascular malformations (abnormal blood vessels). If you have a slow-flow malformation, you may receive alpelisib; if you have a fast-flow malformation, you may receive mirdametinib. Genetic testing is needed to see if your malformation has a specific change that these drugs target.
Parkville, VictoriaAges 2 years+ - NCT05996731Recruiting
Using RNA tests to help diagnose rare genetic diseases
This study uses RNA sequencing to find genetic causes of rare diseases that standard DNA tests might miss. It may help people who have symptoms of a rare disease but no clear genetic diagnosis yet.
Ranica, BGAges Any age - NCT03717844Recruiting
Registry for adults with plasma cell disorders
This study is a registry that collects information about adults with plasma cell disorders (conditions involving abnormal antibody-producing cells). It may help researchers understand these diseases better and improve future care by tracking patients over time.
Chapel Hill, North CarolinaAges 18 years+ - NCT04133285Recruiting
Registry for people with multiple bone growths
This study is a registry that collects information about people with multiple osteochondromas (extra bone/cartilage growths). It may help researchers better understand the condition and improve future care, even if no treatment is given.
Bologna, Emilia-RomagnaAges Any age - NCT04133272Recruiting
Registry for Ehlers-Danlos syndrome patients and pregnancies
This study is a registry that collects information about people with Ehlers-Danlos syndrome, including unborn babies diagnosed before birth. It may help researchers learn more about the condition and improve care over time.
Bologna, Emilia-RomagnaAges Any age - NCT04115774Recruiting
Registry for people with osteogenesis imperfecta
This study is a registry, meaning it collects health information about people with osteogenesis imperfecta (OI) to better understand the condition. It may help researchers learn what care works best and how OI varies from person to person.
Bologna, Emilia-RomagnaAges Any age - NCT04982744Recruiting
Li-Fraumeni and related syndrome patient registry
This is a research registry that collects information from people who have Li-Fraumeni or similar inherited cancer syndromes. It helps doctors better understand these conditions and improve future care.
Bologna, Emilia-RomagnaAges Any age - NCT05247645Recruiting
Collecting data from people with rare bone diseases
This study gathers information about people with rare illnesses that mainly affect the bones. It may help researchers better understand these conditions and improve future care.
Bologna, Emilia-RomagnaAges Any age - NCT05954416Recruiting
Study follow-up for rare skin and related genetic conditions
This study (a “cohort”) follows people with certain rare skin conditions over time. It helps doctors better understand these diseases and improve long-term care, and you may be asked to complete surveys.
BobignyAges Any age
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.