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
- NCT04771156RecruitingPhase 4
Ketorolac pain relief during cleft palate repair
This trial tests whether ketorolac (a pain medicine similar to other NSAIDs) helps control pain during palatoplasty, the surgery to repair a cleft palate. It may help make recovery more comfortable for people having their first palate repair.
Houston, TexasAges 6 months+ - NCT04793867Recruiting
MRI study of lung differences in cystic fibrosis and bronchiectasis
This study uses MRI scanning to better understand how the lungs differ in people with cystic fibrosis (CF) and in people with non-CF bronchiectasis. The results may help doctors understand disease changes over time and guide future care, especially for children and teens.
Cincinnati, OhioAges 5–100 - NCT04848844Recruiting
Congenital heart disease transplant registry study for adults
This study collects and shares anonymous information about adults being considered for a heart transplant because of a congenital (from birth) heart problem or an inherited heart muscle condition. The goal is to better understand these patients and support research that may improve care.
Hamburg, Free and Hanseatic City of HamburgAges 18 years+ - NCT04798950Recruiting
Bronchial Dilation Study in Polynesian Patients
This is a retrospective study (looking back at medical records) examining bronchial dilation—a condition where airways in the lungs become abnormally enlarged—in Polynesian patients. Researchers want to understand this condition better by reviewing past medical records from 2010–2020.
PapeeteAges 18 years+ - NCT04784052RecruitingPhase 1/Phase 2
Briquilimab with reduced donor stem cell transplant for Fanconi anemia
This study tests whether a reduced-intensity donor stem cell transplant (with briquilimab as part of the conditioning) can safely treat bone marrow failure in people with Fanconi anemia. It may help by lowering how much intensive treatment is needed before the transplant, while still helping the donor cells grow.
Stanford, CaliforniaAges 2 years+ - NCT04795843Recruiting
Exercise and education versus usual care for hip dysplasia
This trial compares a structured exercise and patient education program with standard care in people with hip dysplasia. It may help improve hip and groin pain and function, especially if you are not getting the usual surgery (periacetabular osteotomy, or PAO).
Aarhus NAges 18–50 - NCT04848090Enrolling by invitation
Genetic testing for newborns in the hospital intensive care unit
This study uses whole-genome sequencing (a DNA test that looks across the genome) for newborns in the intensive care unit when doctors suspect a genetic condition. It aims to help identify possible genetic causes of illness and improve understanding for families and clinicians.
Pittsburgh, PennsylvaniaAges Up to 1 year - NCT04824040Enrolling by invitation
Study of immune, muscle, and genetic features in LGMD 2B
This study looks at immune function, muscle appearance, and genetic information in people with limb-girdle muscular dystrophy type 2B. It may help researchers understand the condition better, which can support future treatments.
MoscowAges 18–85 - NCT04798430Enrolling by invitationPhase 3
Study drug follow-up for LDL reduction in high-risk cholesterol patients
This Phase 3 study looks at the long-term safety and benefit of OLE LIB003 for people with very high cholesterol or heart disease risk who still need lower LDL (“bad cholesterol”). It’s likely a continuation study for participants who already did earlier LIB003 Phase 3 trials.
Evanston, IllinoisAges 10 years+ - NCT04798690Recruiting
Long-term growth injections for short children
This trial studies the long-term safety and effectiveness of Growtropin®-II, a growth hormone–type injection, in children who are short due to certain causes. It may help your child’s growth over time, while also closely tracking side effects.
Seoul, Seodaemun-guAges 2 years+ - NCT04833907Enrolling by invitationPhase 1/Phase 2
Gene therapy study for typical Canavan disease in children
This early-phase trial tests a gene therapy medicine (delivered by a one-time infusion) for children with typical Canavan disease. It aims to improve safety and help evaluate whether the treatment may benefit children over time.
Dayton, OhioAges 3 months–5 years - NCT04808505RecruitingPhase 3
Study of enzyme therapy for children with infant-onset Pompe disease
This trial tests how well a new enzyme treatment (cipaglucosidase alfa with miglustat) works and how safe it is in children and babies with infant-onset Pompe disease. It may help by improving muscle function after earlier treatment or, for some babies, starting treatment when no prior enzyme therapy has been given.
Gainesville, FloridaAges Up to 17 years - NCT04819841RecruitingPhase 1/Phase 2
Gene correction using your own stem cells to improve sickle disease
This trial tests a gene-correction treatment that changes sickle hemoglobin (HbS) into normal hemoglobin (HbA) using your own stem cells. It may help reduce severe sickle cell complications for people with severe disease who meet specific safety and medical criteria.
Los Angeles, CaliforniaAges 12–50 - NCT04782258RecruitingPhase 3
Testing the safety of tolvaptan in children with ARPKD
This trial is for children from 28 days old up to 18 years who have a rare kidney disease called ARPKD. It will test if the drug tolvaptan is safe for them. The study helps find new treatment options for kids with this condition.
Washington D.C., District of ColumbiaAges 4 weeks–18 years - NCT01245179RecruitingPhase 1
Panobinostat for adults with severe sickle cell
This early-phase study tests panobinostat, a medicine aimed at reducing sickle-cell problems, in adults with severe disease. It’s mainly looking at safety and whether it can improve blood-related issues that drive pain and complications.
Augusta, GeorgiaAges 18 years+ - NCT04630613Recruiting
Studying NOX4 markers in young adults with ADPKD
This study measures a kidney-related marker (NOX4) and other blood/urine signals in people with early-stage ADPKD to better understand disease activity. It may help researchers identify who is likely to progress and why, though it may not be a treatment study.
Rochester, MinnesotaAges 15–40 - NCT04717349Recruiting
Study collects health information for kids’ and teens’ gynecology concerns
This is a research study that gathers information about pediatric and adolescent gynecology conditions. It may help researchers better understand these issues by learning about symptoms, care, and outcomes—without requiring a specific treatment.
Bethesda, MarylandAges 1 day–100 years - NCT04750928RecruitingPhase 1/Phase 2
Abemaciclib for NF1 tumors using pills and body scans
This trial studies whether the medicine abemaciclib can shrink or slow the growth of “atypical neurofibromas” in people with NF1. Participants take pills and undergo regular check-ups, including MRI scans to measure the tumor.
Bethesda, MarylandAges 12 years+ - NCT04708431Recruiting
Study of health and wellbeing in people with androgen insensitivity
This study looks at the long-term health and wellbeing of people with androgen insensitivity, a genetic condition that affects how the body responds to androgens (male-type hormones). It may help your care team understand what to watch for over time and improve future guidance for patients and families.
Bethesda, MarylandAges 8–99 - NCT04762992Enrolling by invitationPhase 3
Heparin medicine for early slow fetal growth in one pregnancy
This study tests whether a blood-thinner medicine (LMWH) can improve outcomes for people carrying a singleton baby with early signs of slow growth. It compares LMWH against standard care to see if treatment helps the baby and pregnancy stay safer.
LisbonAges 18 years+ - NCT04712812Recruiting
Study of childhood-onset hereditary spastic paraplegia
This study follows people with hereditary spastic paraplegia that started in childhood to better understand how the condition progresses over time. It may help doctors learn what to expect and how to plan care, using genetic information and family history.
Boston, MassachusettsAges Up to 30 years - NCT04738708Recruiting
Phone vs in-person genetic counseling for cancer risk
This study compares two ways of getting genetic counseling—by phone/video or in person—for people who may have hereditary cancer syndromes like HBOC or Lynch syndrome. It may help find which counseling approach works best for understanding results and next steps.
SingaporeAges 21 years+ - NCT04691622RecruitingPhase 1
Treat chronic norovirus using donor immune cells
This Phase 1 study tests whether giving immune cells made from a donor can help children and adults with long-lasting (chronic) norovirus infection. It’s aimed at people whose immune system is weakened after a stem cell transplant, solid organ transplant, or due to primary immune problems.
Washington D.C., District of ColumbiaAges 3 months–80 years - NCT04732910Recruiting
Study of CFTR-modulator effects using body samples
This study looks at how well CFTR-modulator medicines are working in people with cystic fibrosis, by checking specific “biomarkers” (measurable signals) in samples. Your care team may use the results to better understand how these medicines help, especially for certain CFTR changes.
Berlin, State of BerlinAges 6 months+
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.