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
- NCT02544022Recruiting
Testing and validating pain and symptom questionnaires for NF1
This study checks whether patient surveys (questionnaires) can reliably measure symptoms and pain in people with NF1 who have plexiform neurofibromas. It helps create better tools for tracking how you feel and how treatments may affect quality of life.
Washington D.C., District of ColumbiaAges 5 years+ - NCT02639312Recruiting
Study of how craniofacial differences develop over time
This study follows children and adults with craniofacial (head/face) differences to learn how their growth changes over time. It also enrolls unaffected family members and healthy volunteers to compare what is “typical,” using scans and optional genetic testing.
Bethesda, MarylandAges 2–100 - NCT02617966Recruiting
Test of how rod and cone vision work in eye disease
This study measures how your eyes use two types of light-sensing cells (rods for dim light and cones for clearer detail). It may help researchers better understand retinal (retina) diseases and how well vision is functioning.
Bethesda, MarylandAges 5–100 - NCT02471287Recruiting
Genetics study for inherited eye conditions
This study looks at genes in people with inherited eye conditions and in close family members who may or may not have the condition. It helps researchers understand what causes these eye diseases and how they might be better studied in the future.
Bethesda, MarylandAges 1–120 - 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 - NCT02641769RecruitingPhase 1/Phase 2
Stem cell injection into testicles for infertility
This trial tests whether injecting your own stem cells into your testicles can help your body start producing sperm. It is for men whose infertility is caused by a sperm-making problem rather than a blockage.
Amman, Amman GovernorateAges 21–50 - 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 - NCT02395497RecruitingPhase 2/Phase 3
Penile transplant trial using immune-suppressing medicines
This study tests whether a donated penis can be successfully transplanted using medicines that calm the immune system to prevent rejection. It also looks at safety and recovery of function in men with severe penile loss from injury, cancer surgery, or birth conditions.
Baltimore, MarylandAges 18–69 - 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 - 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 - NCT02435940Recruiting
Registry for inherited eye vision conditions
This study is a registry, meaning it collects information about people with inherited retinal (retina) diseases. It may help researchers learn how these conditions progress and connect you with future studies or treatments.
Columbia, MarylandAges Any age - 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+ - 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 - NCT02597881Recruiting
Study of achondroplasia health changes over time
This study follows people with achondroplasia to better understand what medical issues happen over time. It may help doctors plan care and recognize patterns earlier.
Baltimore, MarylandAges Any age - NCT02235623Recruiting
Testing a specific surgery for an undescended testicle
This trial studies a surgery approach (Fowler-Stephens orchiopexy) for boys whose testicle is found higher in the abdomen during a camera procedure. It may help doctors choose the best technique to move the testicle into the scrotum.
Boston, MassachusettsAges 4 months–3 years - 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 - 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 - 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 - NCT02302742Recruiting
Registry for triple-negative breast cancer and inherited mutation carriers
This registry studies people with triple-negative breast cancer or inherited “HBOC” gene mutations (like BRCA, PALB2, PTEN, TP53). It collects information to better understand risk, outcomes, and how these cancers behave—helping future research and care.
Hays, KansasAges Any age - NCT02254863RecruitingPhase 1
Stem cell transplant into the spinal fluid for rare brain diseases
This Phase 1 trial tests a transplant using special donated stem-cell–like cells placed into the spinal fluid to treat certain inherited brain diseases. It is mainly designed to check safety, and it may offer benefit by targeting brain and nerve damage.
Durham, North CarolinaAges 1 week–22 years - NCT02432092Recruiting
Genetic testing for heart muscle disease in children and families
This study looks at genetic (DNA) changes that may cause cardiomyopathy, a disease where the heart muscle is weakened. It may help families understand possible causes and inform future care.
Indianapolis, IndianaAges Any age - NCT02315521Recruiting
Pregnancy care study for babies with LUTO
This study tests a standardized plan of prenatal (during pregnancy) care for pregnancies where the baby has LUTO, regardless of when the diagnosis was made. It may help families by testing whether consistent prenatal monitoring and management improves outcomes for babies with this condition.
Houston, TexasAges 3 months–2 years - NCT02497521Recruiting
Registry for adults with ADPKD starting tolvaptan
This registry study collects information about adults with autosomal dominant polycystic kidney disease (ADPKD) who are starting or already taking tolvaptan. It may help researchers understand how tolvaptan is used in real life and what outcomes look like over time.
Müllheim, Baden-WurttembergAges 18 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.