Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,858 recruiting studies in this area right now.
By phase
- Not applicable2,771
- Phase 2284
- Phase 1235
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis128
- Congenital Heart Disease86
- 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
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT05709288RecruitingPhase 1
Gene therapy for teens with hemophilia B
This Phase 1 study tests a one-time gene therapy treatment (BBM-H901) for boys ages 12 to 18 with hemophilia B. It aims to see if the treatment is safe and can help the body make more clotting factor over time.
Tianjin, Tianjin MunicipalityAges 12–18 - NCT05709470Recruiting
Mental health support study for children with heart defects
This study looks at mental health in children and teens (age 5–17) who were born with a heart defect. It may help researchers understand what support is needed and how best to measure mental well-being.
CopenhagenAges 5–17 - NCT05710692RecruitingPhase 2/Phase 3
Study drug PRX-102 for Fabry disease in Japanese patients
This trial tests whether PRX-102 is safe and effective for treating Fabry disease in Japanese participants. It also measures how the drug moves through the body and affects body systems, to see if it helps your symptoms and organ function.
Chikushino-shi, FukuokaAges 13–70 - NCT05716945RecruitingPhase 4
OPTIMISE Study for patients getting cornea transplant surgery
This trial looks at how to manage medicine around DMEK corneal transplant surgery to improve eye outcomes and safety. It may help people having this specific type of cornea transplant by testing an approach in the time after surgery.
Apeldoorn, GelderlandAges 21 years+ - NCT05718440Recruiting
Checking risk factors for urinary and related issues
This study looks at why some adults with spinal dysraphism develop problems with bladder, bowel, and/or sexual function. It gathers information during a one-day visit to help doctors better understand risk factors.
ParisAges 18 years+ - NCT05721937Recruiting
Safety study of CIBINQO in pregnancy and baby outcomes
This study tracks the safety of abrocitinib (CIBINQO) during pregnancy and what it may mean for the baby. You may join if you were pregnant recently or are currently pregnant and have taken CIBINQO, or if you have moderate-to-severe atopic dermatitis.
New York, New YorkAges birth+ - NCT05723445Recruiting
Low glycemic diet test for diabetes and body changes in CF
This trial studies whether a low glycemic load (a specific way of choosing carbohydrates) improves blood sugar control and body composition in adults with cystic fibrosis–related diabetes. It may help reduce blood sugar problems and support healthier weight and body measurements.
Boston, MassachusettsAges 18–70 - NCT05724173Recruiting
Test of a brain-to-computer device for ALS hand paralysis
This study checks whether a brain-computer interface (a BrainGate2 system) is safe and workable for people with ALS. If you qualify, you may be asked to try the device and complete study tasks to help researchers learn how well it can support communication or control.
Stanford, CaliforniaAges 18–80 - NCT05726591Recruiting
Robotic exoskeleton study to improve walking in children
This study looks at how safely using a pediatric robotic exoskeleton over the long term can improve how children walk. It’s for children ages 3–17 who have certain movement or spine-related conditions and who can meet walking and joint-movement requirements.
Bethesda, MarylandAges 3–17 - NCT05734378Recruiting
Study aims to predict outcomes in small blood vessel brain disease
This trial is looking at how brain “small blood vessel disease” changes over time and what outcomes to expect. If you have certain symptoms or scan findings from this condition, your care team may compare your prognosis to help guide future treatment planning.
BernAges 16 years+ - NCT05734521Recruiting
Study of avalglucosidase alfa use during pregnancy
This study collects safety information about avalglucosidase alfa when it’s taken during pregnancy and/or while breastfeeding. If you (or your baby) were exposed to this medicine and consent to be in a pregnancy safety registry, your information may help researchers better understand risks.
Bridgewater, New JerseyAges Any age - NCT05736419RecruitingPhase 2
Immune-suppressing treatment before stem cell transplant for blood disorders
This Phase 2 study tests an immune-suppressing treatment for people with sickle cell disease or beta-thalassemia who are preparing for a stem cell transplant from a donor. It aims to help the transplant work better by changing the immune response.
Basking Ridge, New JerseyAges 2–50 - NCT05739253Recruiting
Study how the aorta changes after a valve procedure
This trial looks at how the ascending aorta (the main artery near the heart) changes over time after transcatheter aortic valve replacement. It may help doctors predict who is at risk of aorta enlargement after this less-invasive valve procedure.
Beijing, Beijing MunicipalityAges Any age - NCT05740579Recruiting
Storing eggs in teens with Turner syndrome variants
This study looks at freezing and storing eggs (cryopreservation) in children and teens with Turner syndrome or related genetic variants. It may help preserve the chance of having biological children later, if you are able to undergo the study procedures safely.
AarhusAges 2–17 - NCT05740761Recruiting
Gene editing for children with Rett syndrome
This trial tests a gene-editing approach for Rett syndrome in children who have a confirmed MECP2 gene mutation. It may help by targeting specific “hotspot” genetic changes that cause the condition.
Siena, SienaAges 6 months+ - NCT05742321Recruiting
Study how corneal cell genetics relate to Fuchs’ disease
This study looks at how a person’s corneal cell genetic makeup relates to what happens in Fuchs’ corneal endothelial dystrophy. It may help doctors understand the disease better and guide future care, especially if you need a corneal transplant.
Saint-EtienneAges 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 - NCT05748717Recruiting
Tests blood flow in children with sickle cell
This study measures how well blood flows through brain arteries in children with sickle cell disease using a noninvasive ultrasound test. It may help doctors better understand stroke risk and how treatments like hydroxyurea or recent care affect blood flow.
Kingston, Saint Andrew ParishAges 4–16 - NCT05749419Recruiting
Vaccines for children with disabilities and long-term conditions
This study looks at how vaccines work in children who have disabilities, long-term (chronic) illnesses, or conditions they were born with. It may help improve vaccine care for kids who need extra support.
JerusalemAges Any age - NCT05750147Recruiting
Study for cardiomyopathy linked to family or genes
This study looks at people with cardiomyopathy (or related heart muscle conditions) and those who may be at risk because of family history or genetic test results. It may help researchers better understand who is likely to develop the condition and how best to monitor or support them.
LondonAges Any age - 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 - 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+ - NCT05761314Recruiting
Study treatments for cancers in people with RASopathy
This study looks at people who have a RASopathy—a genetic condition—and also have solid tumors (tumor growths not in blood). To join, your RASopathy must be confirmed by genetic testing, not only by symptoms.
RomaAges Any age - NCT05762510RecruitingEarly Phase 1
Testing a gene-based treatment for transfusion-dependent thalassemia
This early study tests the safety and potential benefit of the LentiRed gene-based drug in people with transfusion-dependent beta-thalassemia (TDT) who are planning an autologous stem cell transplant. It may help reduce the severity of anemia, but the main goal at this stage is to check safety and side effects.
Nanning, GuangxiAges 5–35
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,858 recruiting medical genetics studies from the U.S. registry right now, out of 5,764 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.