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
- NCT05843552Recruiting
Blood test using small vesicles in Gaucher disease
This study looks for tiny particles in blood (called extracellular vesicles) that may help identify Gaucher disease and could guide future treatments. It also studies people who have Gaucher gene carrier status but do not have the disease, using careful genetic testing.
Minneapolis, MinnesotaAges 18–80 - NCT05767047RecruitingPhase 3
Apremilast study for children with mouth ulcers from Behçet’s
This trial studies whether apremilast can help reduce mouth ulcers in children who have Behçet’s disease or juvenile psoriatic arthritis. You may be considered if your child finished a main study and is under 18, and can safely continue treatment.
ThessalonikiAges 5–18 - NCT04611516Recruiting
Study of ear, nose, and throat checks in PCD patients
This study follows people with primary ciliary dyskinesia (PCD) and looks at their regular ear, nose, and throat (ENT) checkups over time. Your participation may help doctors better understand how ENT care should be followed in PCD.
BernAges Any age - NCT03553420Recruiting
Registry for people with lipodystrophy
This is a study that keeps a medical record (a registry) of people with lipodystrophy, a condition where body fat is missing or unevenly distributed. It may help researchers understand different causes and patterns of the condition over time.
ViennaAges Any age - NCT05810181Recruiting
Interviews to improve choices about gene therapy for rare diseases
This study uses one-on-one interviews to learn what families and clinicians need to make decisions about gene therapy for rare diseases. The goal is to create or improve decision tools that make gene therapy information easier to understand and act on.
Memphis, TennesseeAges 8 years+ - NCT05791604Recruiting
Study prebiotics and probiotics to help children with Prader-Willi
This trial studies whether taking prebiotics and probiotics can help children with Prader-Willi syndrome manage obesity. It’s testing a gut-focused approach to weight control over the study period.
Shanghai, Shanghai MunicipalityAges 3–10 - NCT05778188RecruitingPhase 2
RLS-0071 for newborns with moderate or severe HIE
This trial studies whether RLS-0071 is safe and can help some newborns with moderate or severe hypoxic-ischemic encephalopathy (HIE), a brain injury caused by low oxygen around birth. Babies in the study also receive standard whole-body cooling (therapeutic hypothermia), and the researchers will watch for side effects and early signs of benefit.
Little Rock, ArkansasAges Up to 10 hours - NCT05789056RecruitingPhase 2/Phase 3
Study lotion for Netherton syndrome safety and symptom improvement
This trial tests a prescription lotion (QRX003) to see if it is safe and helpful for people with Netherton syndrome. Because the study checks skin symptoms on certain body areas and closely controls other treatments, it may be best for patients who can keep their current regimen stable.
San Diego, CaliforniaAges 14 years+ - NCT05791864RecruitingPhase 1/Phase 2
Gene therapy for vision loss in CLN2 disease
This study tests a new gene therapy, TTX-381, given as an eye injection to slow or stop vision loss in children with CLN2 disease. It is for children who are already receiving enzyme replacement therapy and are in a stage of rapid vision decline.
HamburgAges 2–7 - NCT04602481Recruiting
Living with primary ciliary dyskinesia study
This study invites people who have been told they may have, or who have confirmed, primary ciliary dyskinesia. It aims to better understand living with PCD and what helps people day to day.
BernAges Any age - NCT05664412Recruiting
Brain stimulation trial to improve thinking in 22q11.2 deletion
This trial tests a non-invasive brain stimulation approach to help improve executive function—skills like planning, attention, and self-control—in people with 22q11.2 deletion syndrome. If you qualify, you would be asked to participate and allow study procedures to see whether this treatment helps.
Geneva, Canton of GenevaAges 14–25 - NCT05769621Recruiting
Study of medical records in propionic acidemia patients
This is a “chart review” study that looks at how people with propionic acidemia have symptoms and medical events over time. It uses existing medical records (not an experimental drug) to better understand the disease and care needs.
Stanford, CaliforniaAges 2 years+ - NCT05777993Enrolling by invitationPhase 4
Continued access to mitapivat for prior study participants
This study provides continued access to the drug mitapivat for people who have already been in a mitapativ study and are benefiting from it.
Anderlecht, Brussels CapitalAges 18 years+ - NCT05750901Recruiting
Laser treatment study for loose skin or scars
This study tests a laser procedure to improve visible skin looseness or scars. You may be eligible if you have a targeted skin area needing treatment and can follow scheduled visits and after-care.
Boca Raton, FloridaAges 18–85 - NCT05768139RecruitingPhase 1/Phase 2
Testing a new targeted drug for advanced solid tumors with PI3Kα mutation
This trial tests tersolisib, a new targeted medicine, in adults with advanced or hard-to-remove solid cancers. It focuses on tumors that have a specific genetic change (PI3Kα mutation) to see how well the treatment works and what side effects it causes.
Los Angeles, CaliforniaAges 18 years+ - NCT05768386Enrolling by invitation
Long-term follow-up for severe hemophilia A after BMN 270 study
This study checks how people with severe hemophilia A are doing over time after joining a previous BioMarin study of BMN 270. It helps researchers understand long-term safety and outcomes and may support your ongoing care plan.
Los Angeles, CaliforniaAges 18 years+ - NCT05777512Recruiting
Comparing feeding tube placement to improve breathing in preterm infants
This study tests whether placing a feeding tube past the stomach (postpyloric) can help very premature babies with ongoing lung problems breathe better. Infants born before 32 weeks who still need breathing support may join.
Boston, MassachusettsAges birth–1 year - NCT05760287Recruiting
Study of heart ultrasound findings in cardiac amyloidosis
This study looks at how cardiac amyloidosis shows up on heart imaging, especially ultrasound (echocardiography). It may help doctors better describe and track the condition using your exam and test results.
Roma, RMAges 18 years+ - NCT05775224Enrolling by invitation
Join a research data hub for sickle cell or multiple myeloma
This study builds a database of people with sickle cell disease and/or active multiple myeloma (diagnosed or treated in recent years). It may help researchers learn how these illnesses behave and support better future studies or treatments.
Washington D.C., District of ColumbiaAges Any age - NCT05757960Enrolling by invitation
Physiotherapy program for jaw pain in hEDS
This study tests a tailored physical therapy (physiotherapy) approach for jaw pain caused by temporomandibular disorder (TMD) in people with hypermobile Ehlers-Danlos syndrome (hEDS). It may help reduce jaw muscle and joint pain and improve function.
MünsterAges 18 years+ - NCT05747976Recruiting
Study for children with very high body size measurements
This study is building a program database for children who have unusually high body size measurements for their age. By collecting genetic and health information, researchers hope to better understand causes of obesity and guide care.
Houston, TexasAges Any age - NCT05750667Enrolling by invitation
Family screening for familial high cholesterol
This trial is about helping families with familial hypercholesterolemia (a genetic condition that causes very high cholesterol) get screened. It tests a way to reach close relatives so they can learn their risk and consider next steps.
Philadelphia, PennsylvaniaAges 18 years+ - NCT05766774Recruiting
Diet study for adults with cystic fibrosis and high sugar intake
This trial studies whether changing eating habits—especially added sugar intake—affects health in adults with cystic fibrosis. It may help by testing a diet approach aimed at better outcomes related to metabolism and overall health.
Atlanta, GeorgiaAges 18 years+ - NCT05765084RecruitingPhase 1/Phase 2
Atezolizumab plus WT1 vaccine with chemo for pleural mesothelioma
This trial studies a treatment plan that combines an immune drug (atezolizumab) and a personalized cancer vaccine (WT1/DC) with standard first-line chemotherapy for epithelioid malignant pleural mesothelioma that cannot be removed with surgery. It aims to improve control of the cancer by helping the immune system work alongside chemotherapy.
Edegem, AntwerpAges 18 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.