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
- NCT03606200Recruiting
Join a registry for primary ciliary dyskinesia
This study is a registry that collects information from people diagnosed with primary ciliary dyskinesia. It may help researchers better understand the condition over time and improve future care.
BernAges Any age - NCT05868629Recruiting
Test of two targeted drugs for tumors with BRAF V600E
This trial tests dabrafenib plus trametinib in people whose solid tumors have a BRAF V600E mutation that cannot be fully removed by surgery or has spread. It looks at whether these targeted medicines can shrink tumors and control the disease.
Torrance, CaliforniaAges 1–100 - NCT05868499Enrolling by invitationPhase 1
Study follow-up for people who finished the first trial
This Phase 1 study is a follow-up “rollover” for people who already completed the 12-month visit of an earlier study. It checks what happens next after that prior study and may help doctors understand the ongoing safety and effects of the treatment.
Cincinnati, OhioAges 18 years+ - NCT05871970RecruitingPhase 2
TARA-002 treatment for lymphatic cysts in children
This Phase 2 trial tests whether an injected medicine called TARA-002 placed inside lymphatic cysts can safely shrink lymphatic malformations in children. It may help especially when the cysts are mainly in the head, neck, or chest area.
Birmingham, AlabamaAges 6 months–18 years - NCT05876169Enrolling by invitation
Study how jaw surgery changes neck and jaw movement
This study looks at how orthognathic (jaw alignment) surgery affects how your jaw and neck muscles move. It may help doctors better understand recovery and movement changes after surgery.
UmeåAges 16–50 - NCT05858619RecruitingPhase 4
Study of skin response to dupilumab in eczema
This trial studies how the body’s “molecular signals” change in the skin after using dupilumab for eczema. It may help researchers understand who benefits most from treatment.
San Francisco, CaliforniaAges 18 years+ - NCT05869825Recruiting
Breathing support after extubation in babies after heart surgery
This trial compares two ways of helping babies breathe after their breathing tube is removed following heart surgery. It may help find which support method works better and is safer for the smallest patients.
Atlanta, GeorgiaAges Up to 1 year - NCT05849285Recruiting
Testing a program to support adults with lifelong care needs
This study tests a “Transitional and Lifelong Care” program for adults who had a disability since childhood, and includes their main caregiver or support person. It aims to see how this type of care support may improve experiences and support over time.
London, OntarioAges 21 years+ - NCT05849155Recruiting
Talking study for teens with inherited cancer risk
This study looks at how parents and children communicate after learning about an inherited (genetic) cancer risk. It may help researchers find better ways to support families in these conversations.
Memphis, TennesseeAges 10–24 - NCT05870007Enrolling by invitationPhase 2
Atorvastatin and alkalizing treatment for autosomal dominant PKD
This Phase 2 study tests whether atorvastatin plus an “alkalizing” treatment (sodium bicarbonate) can slow or improve disease effects in people with autosomal dominant polycystic kidney disease (ADPKD). It specifically targets metabolic acidosis (when the body becomes “too acidic”), which may worsen kidney health.
New Taipei CityAges 18 years+ - NCT05858606Recruiting
Study genes and causes of very short height in children
This study looks at your child’s growth history and performs genetic testing to better understand why some children are very short. It may help researchers identify possible underlying causes and improve care, using blood samples from the child and both parents.
MontpellierAges 4–18 - NCT05849662RecruitingPhase 1/Phase 2
Trametinib plus azacitidine for newly diagnosed JMML
This trial studies whether trametinib and azacitidine can control juvenile myelomonocytic leukemia (JMML) soon after diagnosis. It’s designed to test safety and how well the treatment works in children and young adults who meet specific leukemia and genetic criteria.
Phoenix, ArizonaAges 1 month–21 years - NCT05854433Enrolling by invitation
Study brain structure in adults with muscle weakness
This study uses scans and other tests to understand how brain structure relates to symptoms in people with myotonic dystrophy type 1 or type 2. It may help researchers connect measurable brain changes to movement and other clinical outcomes.
Winston-Salem, North CarolinaAges 30–65 - NCT05849025Recruiting
MRI heart study using blood-pressure and kidney checks
This study adds an MRI and other measurements to a heart registry to better understand heart function. You might benefit by getting detailed heart and kidney measurements, but you must meet safety and eligibility rules (like blood pressure, BMI, and being off heart medicines).
Rochester, MinnesotaAges 18 years+ - NCT05848310Recruiting
Blood test before surgery to predict biliary atresia outcome
This study looks at a specific pre-surgery blood marker called FGF19 (and related liver blood tests) in children with biliary atresia. The goal is to see whether the blood results before surgery can help predict how well children recover after surgery.
Shanghai, Shanghai MunicipalityAges Any age - NCT05841628Recruiting
Testing a 532-nanometer laser for port wine stain comfort
This study tests how tolerable (comfortable and safe) a specific 532-nanometer laser treatment is for people with non-facial port wine stains. If you join, you’ll get laser sessions and have skin photos taken, while avoiding other treatments on the same area.
Boston, MassachusettsAges 18–75 - NCT04232085RecruitingPhase 2
Stem cell transplant to rebuild immunity in genetic immune disorders
This Phase 2 trial tests a stem cell (bone marrow) transplant approach to restore bone marrow function and immune function in people with certain inherited immune problems. If you have one of these conditions and a suitable donor, the study may offer a path to rebuild blood and immune systems.
Baltimore, MarylandAges 4 months–50 years - NCT05825131Recruiting
Natural history study for Sanfilippo type C disease
This study follows people with Sanfilippo syndrome type C to better understand how the disease changes over time. It does not appear to test a new medicine; instead, it collects health and development information that can help future treatments.
Dallas, TexasAges 1 year+ - NCT05822908RecruitingPhase 1/Phase 2
Study drug VO659 for SCA1, SCA3, and Huntington disease
This early-phase study tests whether VO659 is safe and how the body processes it in people with certain genetic movement disorders (SCA1, SCA3, or Huntington disease). It may help researchers learn the right dose and whether the drug can be given safely.
CopenhagenAges 25–60 - NCT05847179RecruitingPhase 2
Treating bone weakness in Werner syndrome
This study tests an investigational drug for people with Werner syndrome who have weak bones (osteopenia or osteoporosis). The goal is to see if the drug is safe and can help improve bone health.
Ann Arbor, MichiganAges 18 years+ - NCT05813678Recruiting
Long-term safety monitoring for Palynziq in PKU
This study tracks the long-term safety of Palynziq (pegvaliase) in people with PKU as they take the medicine over time. It may help you and other patients understand long-term side effects and whether Palynziq stays safe.
Aurora, ColoradoAges Any age - NCT05844449Enrolling by invitationPhase 3
Check long-term safety and effectiveness of CF medicines
This Phase 3 study looks at how well and how safely Vanzacaftor/Tezacaftor/Deutivacaftor works over the long term in people with cystic fibrosis who already took the study medicine before. It may help confirm the best long-term plan and spot important safety issues.
Orange, CaliforniaAges 1 year+ - NCT05836259RecruitingPhase 1/Phase 2
TN-201 for heart symptoms from MYBPC3 heart disease
This early trial tests TN-201 to see how safe it is and how well it works to reduce symptoms in adults with MYBPC3-related hypertrophic cardiomyopathy. It’s designed to learn safe dosing, and you may be eligible if you have specific genetic heart changes and ongoing symptoms.
La Jolla, CaliforniaAges 18–75 - NCT05838235Recruiting
Exercise program for kids with Marfan syndrome
This trial studies an adapted physical activity (exercise) program to support effort rehabilitation in children and teens with Marfan syndrome. It may help safely improve activity and fitness while monitoring heart-related risks.
ToulouseAges 7–17
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.