Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,863 recruiting studies in this area right now.
By phase
- Not applicable2,776
- Phase 2282
- Phase 1237
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis129
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease39
- Hemophilia A39
- 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 Human Genome Research Institute (NHGRI)23
Where studies are running
- California339
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona77
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,863 total
- NCT06739434Enrolling by invitation
Gene therapy for Rett syndrome in girls
This trial tests a new gene therapy called GCB-002 for girls with Rett syndrome caused by a MECP2 gene change. It may help improve symptoms by targeting the root genetic cause.
Shanghai, Shanghai MunicipalityAges 2–10 - NCT05708677Enrolling by invitation
Long-term follow-up after prior EB-101 treatment for RDEB
This study looks at long-term outcomes for people with recessive dystrophic epidermolysis bullosa (RDEB) who were previously treated with EB-101. It may help doctors understand how the treatment affects patients over time.
Redwood City, CaliforniaAges 6 years+ - NCT05767658Recruiting
Online messages to support safer infant care
This study tests whether online social network posts and text messages can help pregnant people practice safer infant care after birth. It may help you feel more prepared about feeding and safe sleep.
Boston, MassachusettsAges Any age - NCT05236595Enrolling by invitation
Personalized study for rare genetic diseases using genetic “target” drugs
This study looks for rare genetic conditions where a personalized genetic medicine (an antisense drug) could potentially work. If the team finds a “targetable” DNA or RNA change in your family, you may be followed to see how the best therapy could be planned.
Scottsdale, ArizonaAges Any age - NCT06935019Enrolling by invitation
Genome sequencing for kids with undiagnosed rare diseases
This study offers genome sequencing (a complete look at your child's DNA) to help diagnose a suspected rare disease faster. It's for children who are newly referred to the genetics clinic at SickKids or CHEO and haven't had this type of testing before.
Ottawa, OntarioAges Up to 18 years - NCT06884046Recruiting
Supporting parents of babies with heart conditions
This study offers support to parents whose baby is diagnosed with a heart condition before birth and will need surgery shortly after birth. The goal is to help parents manage stress during this difficult time.
Pessac, FranceAges birth–4 weeks - NCT07745218Recruiting
Testing a new companion therapy for LAMA2 muscular dystrophy
This study looks at a new protein that might help people with LAMA2-related muscular dystrophy. It uses stored samples to see if the protein could be a useful addition to future treatments.
MilanAges Any age - NCT06128226Recruiting
Screening study for CLN2 disease in 6-year-olds
This study is screening children for a rare genetic condition called CLN2 disease. It looks for signs like seizures, speech loss, and movement problems to find out how common this condition is among 6-year-olds.
AdanaAges 2–6 - NCT07317193Recruiting
Genetic causes of adult bile duct disease
This study looks for new genes that might cause abnormal liver test results or specific bile duct diseases in adults, when standard testing hasn't found a clear cause. It also uses healthy blood donors as a comparison group.
Milan, MilanoAges 18–65 - NCT06915311Recruiting
Danish Study on Embryo Genetic Testing for Single-Gene Disorders
This study looks at how well a genetic test on embryos (called PGT-M) can find specific single-gene disorders. It will help doctors learn more about these tests and improve care for families.
AalborgAges Any age - NCT06887881Recruiting
Comparing two embryo-testing methods for women with PCOS
This trial compares a new way of testing embryos (PIMS) with the standard method (PGT-A) for women with polycystic ovary syndrome (PCOS) who are doing IVF. The goal is to see which method helps more women have a successful pregnancy.
Zhongshan, GuangdongAges 20–40 - NCT07058662RecruitingPhase 1/Phase 2
Gene therapy study for Duchenne muscular dystrophy in boys 4-8
This study tests a new gene therapy called BBM-D101 for boys with Duchenne muscular dystrophy. The goal is to see if it is safe and can help improve muscle function. It is for boys aged 4 to 8 who can still walk.
Beijing, Beijing MunicipalityAges 4–9 - NCT06890520Recruiting
Brain chemistry study for mitochondrial disease
This study looks at brain chemicals in people with primary mitochondrial disease using an MRI scan. It aims to understand how the disease affects the brain and may help guide future treatments.
Philadelphia, PennsylvaniaAges 8–75 - NCT06880094Recruiting
Genetic study of complex or inherited cleft lip and palate
This study uses a new genetic test called Optical Genome Mapping to look for hidden genetic causes of cleft lip or palate that are syndromic, complex, or run in families. It may help find answers for people who haven't gotten a genetic diagnosis yet.
AmiensAges Any age - NCT07680803RecruitingPhase 2
Gene therapy for transfusion-dependent beta-thalassemia
This trial tests a one-time gene therapy using your own stem cells to help you produce healthy red blood cells and reduce or eliminate the need for regular blood transfusions. It is for people with transfusion-dependent beta-thalassemia who are between 3 and 35 years old.
Rome, LazioAges 3–35 - NCT07572435Recruiting
Remote Heart Exercise Program for Kids With Heart Surgery
This study tests whether kids aged 8–18 who had complex heart surgery can safely improve their fitness and well-being using exercise activities at home through a mobile app or video. The goal is to help them become more active after surgery.
SeoulAges 8–18 - NCT06831747Recruiting
Mini-incision vs standard laparoscopy for preventive ovary removal in BRCA
This trial compares two ways to do preventive ovary-removal surgery: one using a single tiny incision and the other using a standard laparoscopic approach. The goal is to see which method works better for women with a BRCA gene mutation.
Udine, UdineAges 18 years+ - NCT06800599Enrolling by invitation
Cancer genetic risk assessment registry
This study collects information from people who receive genetic counseling for cancer risk. Joining the registry helps researchers learn more about cancer genetics and improve future care.
Bologna, ItalyAges Any age - NCT07142447Recruiting
Behavioral program to reduce chemical exposure during pregnancy
This trial tests a behavior-change program to help pregnant women and their partners reduce exposure to hormone-disrupting chemicals. It aims to lower these chemicals in the body and improve health for mother and baby.
Badalona, BarcelonaAges 18 years+ - NCT06782802Recruiting
Study on early diagnosis of a brain structure closure in pregnancy
This study looks at what it means when a small fluid-filled space in the baby's brain closes earlier than usual during pregnancy. Researchers want to understand if this finding can predict the baby's future health and development.
Bologna, BolognaAges 4 weeks–44 years - 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+ - NCT06746610Recruiting
Personalized management for inherited diabetes in young adults
This study looks for people with a type of diabetes that runs in families, often diagnosed at a young age. It uses genetic testing to find the exact cause and then tailor treatment to each person.
TianjinAges Any age - NCT07432490RecruitingPhase 2
Fucose supplement trial for GLUT1 deficiency
This trial tests whether taking fucose (a type of sugar) can help people with GLUT1 deficiency syndrome, a rare genetic condition that affects how the brain gets energy. If you have ataxia (trouble with balance or coordination) and meet other criteria, this study may be an option for you.
Portland, OregonAges 18 years+ - NCT05913843Recruiting
Study how ancestry may affect facial features in rare genetic conditions
This study looks at how a person’s ancestry might influence the facial appearance seen in rare inherited (genetic) diseases. You may be considered if you have unusual physical signs and doctors suspect a genetic cause.
TaipeiAges Any age
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,863 recruiting medical genetics studies from the U.S. registry right now, out of 5,730 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.