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 applicable2,772
- Phase 2282
- Phase 1235
- Phase 3215
- Phase 1/Phase 2204
- Phase 497
- Phase 2/Phase 353
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis129
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome54
- 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
- California340
- Maryland161
- Alabama132
- Massachusetts116
- New York84
- Arizona79
- Texas73
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT06940193Enrolling by invitation
Egoo Phe home test for phenylalanine levels in PKU
This study tests a new home blood test (Egoo Phe) for measuring phenylalanine levels in people with PKU, as well as in healthy adults. It aims to see if it is accurate and easy to use.
BirminghamAges Up to 3 years - NCT06938542Enrolling by invitation
Palliative care needs for kids with rare diseases
This study asks children with rare diseases and their families about what kind of palliative care (comfort and support) they need. It aims to understand how to better help families through their child's illness.
Washington D.C., District of ColumbiaAges 1–99 - NCT06935461Enrolling by invitation
Support program for infants and toddlers with prenatal alcohol exposure
This study tests a program called 'Families Moving Forward Bridges' for infants and toddlers (6–36 months) who were exposed to alcohol before birth and have developmental delays. It helps families support their child's growth and development.
Shoreline, WashingtonAges 6 months+ - NCT06914726Enrolling by invitation
Cancer risk follow-up care for hereditary syndromes
This study tests a tool to help primary care doctors provide better cancer prevention care for people with hereditary breast and ovarian cancer (HBOC) or Lynch syndrome (LS). It aims to ensure you're up-to-date on recommended screenings and preventive steps.
Minneapolis, MinnesotaAges 18 years+ - NCT06908850Enrolling by invitation
Understanding erogenous zones after spinal cord injury
This study explores how a complete spinal cord injury changes erogenous zones in adult men who are heterosexual and were sexually active before the injury. The goal is to better understand sexual response after injury.
GarchesAges 18 years+ - NCT06897787Enrolling by invitation
Jaw surgery study: how jaw position affects joint healing
This study looks at how the way the upper jaw is positioned during corrective jaw surgery affects the joint's healing over time. It may help people with a specific type of underbite who are already planning to have both upper and lower jaw surgery.
Istanbul, FatihAges 18–65 - NCT06892236Enrolling by invitation
Creating gene-corrected stem cells for Alpha-1 Antitrypsin Deficiency
This trial uses your own cells to create stem cells (iPSCs) that can be genetically corrected to treat severe Alpha-1 Antitrypsin Deficiency. It is an early study exploring a potential cure.
Pavia, PaviaAges 18 years+ - NCT06888570Enrolling by invitation
Liver health study for children & young adults with Down syndrome
This study looks at how eating patterns and body composition relate to fatty liver in children and young adults with Trisomy 21 (Down syndrome) or other genetic intellectual disabilities. It may help understand who is at risk and how to prevent liver problems.
Madrid, MadridAges 5–22 - NCT06887491Enrolling by invitation
Dual-tasking (thinking + moving) program for children with Duchenne MD
This study tests whether a special program that combines thinking tasks (like counting or remembering) with physical activities can help boys with Duchenne muscular dystrophy improve their thinking, movement, and ability to do everyday tasks independently.
Ankara, CankayaAges 6–12 - NCT06880250Enrolling by invitation
Enzyme therapy study for Fabry disease patients
This trial tests if enzyme replacement therapy works well and is safe for Fabry disease. It is for people who are already prescribed this treatment.
AstrakhanAges 8–65 - NCT06879665Enrolling by invitation
Tandem trial for caregivers of TSC patients
This trial aims to improve access to interventions for Tuberous Sclerosis Complex (TSC)-related issues by working with adult caregivers. If you are an adult caring for someone with TSC, this study may help close the gap to better support and treatments.
Silver Spring, MarylandAges 18 years+ - NCT06868784Enrolling by invitation
Thinking and daily skills in children with Duchenne
This study looks at how thinking skills (like planning and memory) affect everyday activities such as dressing or playing in children with Duchenne muscular dystrophy. It aims to find ways to help kids do better in their daily lives.
Ankara, ÇankayaAges 6–12 - NCT06867107Enrolling by invitationPhase 2
Long-term follow-up study of SAT-3247 for Duchenne
This is a long-term follow-up study for people with Duchenne muscular dystrophy who already took part in a previous SAT-3247 trial. It checks how safe and effective the treatment stays over a longer time.
Melbourne, VictoriaAges 18–40 - NCT06864039Enrolling by invitation
Quality of life in treated congenital hypothyroidism
This study looks at the long-term quality of life for people who were diagnosed with congenital hypothyroidism at birth and started treatment within the first month of life. It aims to understand how early treatment affects their health and well-being as they grow up.
NaplesAges 16–21 - NCT06845332Recruiting
Best treatment choices for newborns with suspected early infection
This trial is testing ways to make the best treatment decisions for newborns who may have an early infection (sepsis). It focuses on babies born at 34 weeks or later and within their first three days of life.
AlkmaarAges Up to 3 days - NCT06843811Enrolling by invitationPhase 2
Sirolimus for Leigh Syndrome
This trial tests if sirolimus can help people with Leigh syndrome. It aims to see if the drug can improve neurological symptoms and is looking for participants aged 6 months to 55 years.
Philadelphia, PennsylvaniaAges 6 months–55 years - NCT06841224Enrolling by invitation
Pressure inside the belly during PD for polycystic kidney disease
This study looks at factors that affect the pressure inside the belly (intraperitoneal pressure) in people with polycystic kidney disease who are on peritoneal dialysis. The goal is to better understand how PD works for these patients and help guide their care.
Beijing, Beijing MunicipalityAges 18–80 - NCT06831734Enrolling by invitation
Real-world safety study of Alhemo in hemophilia
This trial will track how well Alhemo works and how safe it is for people with hemophilia A or B in everyday use. If you are 12 or older and your doctor has already decided to start you on Alhemo, this study will collect information to help doctors better understand the medicine's real-world benefits and risks.
ChibaAges 12 years+ - NCT06826209Enrolling by invitation
Comparing arm function in children with and without hemophilia
This study compares how well children with hemophilia use their arms and hands compared to healthy children. If your child has hemophilia A or B, is on regular treatment, and has no inhibitors or recent bleeds in the arm, they may be able to join.
Ankara, AnkaraAges 7–17 - NCT06822933Enrolling by invitation
Remote monitoring study for gout patients
This study tests whether using a smartphone or tablet to monitor your gout from home can help manage the condition. You may qualify if you have had at least one gout flare in the last year and have high uric acid levels.
Oslo, Please SelectAges 18 years+ - NCT06816953Enrolling by invitation
Joint health in severe hemophilia A with prophylaxis
This study is looking at how well joint health can be tracked in people with severe hemophilia A who are receiving regular factor VIII treatment. It uses special markers in the blood and ultrasound to check for early joint changes.
Bangkok, PatumwanAges Any age - NCT06813625Enrolling by invitation
Shared reading for mental well-being in young people
This trial tests whether reading books together can improve mental well-being in young people with and without Down syndrome. It involves children with Down syndrome and college students from the University of Macau reading together.
MacauAges 2–35 - NCT06786754Enrolling by invitation
Skin cell study for Marfan syndrome and aortic aneurysms
This study looks at skin cells (fibroblasts) from people with Marfan syndrome or other genetic conditions that cause thoracic aortic aneurysms. The goal is to understand how these cells behave, which may help improve future treatments.
San Donato Milanese, MilanAges 18 years+ - NCT06776822Enrolling by invitation
DNS therapy for asymmetry after heart surgery in children
This trial tests whether a special physical therapy called DNS (Dynamic Neuromuscular Stabilization) can help children aged 6 to 18 who have body asymmetry (uneven movement or posture) after surgery for a congenital heart defect. Participation may improve their balance and muscle control.
PragueAges 6–18
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 5,795 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.