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
- NCT02432625Recruiting
Long-term study of bone fragility in osteogenesis imperfecta
This study follows people with osteogenesis imperfecta (OI) to better understand how it affects bones and related issues over time. It may help doctors learn which features and genetic changes predict problems, and guide future care.
Phoenix, ArizonaAges Any age - NCT02397824Recruiting
Teeth photo study for people with rare diseases
This study looks at how rare diseases can show up in the mouth and teeth, using pictures of your teeth. It may help doctors recognize dental signs earlier and better describe these rare conditions.
Strasbourg, AlsaceAges Any age - NCT02447861Recruiting
Study of behavior differences in 3q29 deletion or duplication
This study looks at how brain development and behavior may differ in people with a 3q29 deletion or 3q29 duplication. It may help researchers understand what to expect and how these conditions affect daily life.
Piscataway, New JerseyAges Any age - NCT02579044Enrolling by invitationPhase 1/Phase 2
Everolimus plus lonafarnib for children with progeria
This trial tests whether adding everolimus to ongoing lonafarnib improves health and slows complications in people with genetically confirmed progeria. It mainly checks safety and early signs of benefit in Phase I/II.
Boston, MassachusettsAges 1.5 years–25 years - NCT02237625Recruiting
Study tracking patients with hypophosphatasia over time
This study follows people who already have hypophosphatasia (HPP) to better understand how the condition changes over time. It may help doctors recognize patterns and improve care, even if you are not receiving a new treatment.
Durham, North CarolinaAges Any age - NCT02542683Recruiting
Physical activity program to support children’s brain development
This study looks at whether a structured physical activity program can support thinking and brain development in children around age 2–5. Your child may be eligible if they are having certain surgeries or fit a matched “control” group and do not have specific neurologic or heart-related issues.
New York, New YorkAges 2.5 years–6 years - NCT02399527Recruiting
Lymphatic problem registry for tracking outcomes
This study enrolls people with certain lymphatic (lymph fluid) conditions to collect information and track how they do over time. It may help doctors better understand outcomes and improve care.
Boston, MassachusettsAges Any age - NCT02437396Recruiting
Blood tests in stable adults with Gaucher disease
This study measures inflammation and “oxidative stress” (cell stress caused by imbalance in the body) using blood biomarkers in adults with Gaucher disease. It may help researchers understand what’s happening in the body and how treatment status relates to these blood signals.
Minneapolis, MinnesotaAges 18–75 - NCT02497534Recruiting
Biomarker testing study for Friedreich’s ataxia
This study looks at “biomarkers” (measurable signs in the body, like test results from blood or other checks) in people with Friedreich’s ataxia. It may help researchers understand the disease better and track changes over time.
Gainesville, FloridaAges 6–70 - NCT02283229Enrolling by invitation
Early newborn head shaping after birth study
This study looks at how gently shaping a newborn’s head in the first days after birth might affect head shape later. It may help researchers understand how to reduce uneven head shape in babies.
OuluAges 1 day–6 days - NCT02316314Recruiting
Study heart scan and function in people with Friedreich’s ataxia
This study uses heart tests (including ultrasound and MRI) to better understand how Friedreich’s ataxia affects the heart. You might benefit by getting detailed heart evaluation and contributing to research that could guide future care.
New York, New YorkAges 12–50 - NCT02413450Enrolling by invitation
Using patient DNA cells to study inherited heart rhythm risks
This study uses your blood or genetic information to make “iPS cells,” lab-grown cells that can help researchers study inherited heart rhythm problems like LQTS, Brugada syndrome, CPVT, or early repolarization syndrome. It may help improve understanding of why these rhythms happen and guide future treatments.
Baltimore, MarylandAges 18–85 - NCT02650622Recruiting
Study of genetic and metabolic diseases in children
This study looks at children who may have genetic (inherited) or metabolic (body chemistry) problems, including newborn screening and episodes of trouble. The goal is to better understand these conditions and identify children who may benefit from further care.
Dallas, TexasAges 1 day+ - NCT02306720Enrolling by invitation
Patient registry for hypophosphatasia (HPP)
This trial is a registry that collects information about people with hypophosphatasia to help researchers understand the condition better. It may help future studies, but it’s not a treatment trial.
Centennial, ColoradoAges Any age - NCT02325674Recruiting
Metreleptin safety and effectiveness registry
This registry follows people who are already taking metreleptin (a medicine for certain rare conditions) to better understand its long-term safety and how well it works in everyday use. It may help you and other patients by building real-world evidence about this treatment.
Birmingham, AlabamaAges Any age - NCT01778543Recruiting
Study genes behind small eyes and eye coloboma
This study looks at how genes may cause certain eye conditions called microphthalmia, anophthalmia, and uveal coloboma. You may qualify if you have one of these conditions or are a close, unaffected relative who could also carry the gene.
Bethesda, MarylandAges 1–100 - NCT01905826Recruiting
Study of GATA2 deficiency causes and health outcomes
This natural history study looks at how GATA2 deficiency (a genetic condition) affects health over time. It may help doctors better understand complications and plan future care, and it includes genetic testing and stored samples.
Bethesda, MarylandAges 2–100 - NCT01631617RecruitingPhase 2
Atopic dermatitis treatments and how they affect skin
This Phase 2 study tests different treatments for atopic dermatitis (eczema) by looking at changes in skin health. It may help people find safer, more effective ways to control moderate to severe eczema and related skin infections.
Bethesda, MarylandAges 2–50 - NCT01496625Recruiting
Biobank study for retinal diseases and comparison samples
This study collects and stores blood and eye-related medical information to help researchers better understand retinal diseases, including age-related macular degeneration and diabetic retinopathy. Your samples may also be used to compare people with retinal disease to people without it.
Bethesda, MarylandAges 2–120 - NCT01780168Recruiting
Study of metabolism, infection, and immunity in mitochondrial disease
This study looks at how metabolism, infections, and the immune system work together in people with mitochondrial disease. It aims to learn more about the condition and may help guide future treatments.
Bethesda, MarylandAges 4 weeks–115 years - NCT01443468Recruiting
Study of Li-Fraumeni syndrome family cancer risk
This study collects medical and genetic information to better understand how often cancer develops in people with Li-Fraumeni syndrome and related family risks. It may help families and doctors plan earlier awareness and follow-up over a person’s lifetime.
Bethesda, MarylandAges Any age - NCT02119611Recruiting
Deep brain stimulation for Parkinson’s, dystonia, or tremor
This study tests deep brain stimulation (DBS), a therapy that sends electrical signals to the brain, for movement problems like Parkinson’s disease, dystonia, and essential tremor. It may help people whose symptoms are not controlled enough with medications, or who already have a DBS device and need ongoing management.
Bethesda, MarylandAges 18–100 - NCT02089789Recruiting
Study of inherited glycosylation disorders for diagnosis
This study helps doctors diagnose congenital (from birth) glycosylation disorders, which are inherited conditions that affect how the body builds certain sugar-related proteins. You (or your child) may have clinic visits, blood or other samples, and possibly genetic testing—especially if there are family members with a known or suspected condition.
Bethesda, MarylandAges 1 month–80 years - NCT01432847Recruiting
Collecting eye-related samples to study eye diseases
This study collects samples like blood and a small skin biopsy (and sometimes urine, hair, or saliva) to better understand causes of eye diseases. The goal is to study eye conditions and may help researchers build better tests or treatments.
Bethesda, MarylandAges 1 day–120 years
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.