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
- NCT06103487Enrolling by invitation
Long-term follow-up for RGX-111 treatment
This study follows participants who previously received the RGX-111 treatment to monitor their health over time. It helps researchers understand the long-term effects and safety of the therapy.
Orange, CaliforniaAges Any age - NCT06092034RecruitingPhase 2
Gene therapy for Danon disease in males
This trial tests a gene therapy called RP-A501 for males with Danon disease, a genetic condition that affects the heart. The treatment aims to fix the faulty gene to help improve heart function and slow disease progression.
La Jolla, CaliforniaAges 8 years+ - NCT04885179Recruiting
Study of SPLIS genetics and patient experiences
This observational study and patient registry collects information from people diagnosed with SPLIS due to specific changes in the SGPL1 gene, including children and newborns. It helps researchers understand the condition better and may improve future care and research planning.
San Francisco, CaliforniaAges Any age - NCT02864108Recruiting
Study of Trisomy in people with and without Down syndrome
This study includes people of many ages to help researchers learn more about Trisomy (an extra chromosome condition) in those with and without Down syndrome. It may help improve understanding and future care for people affected by chromosome differences.
Denver, ColoradoAges 6 months–89 years - NCT06101940Enrolling by invitation
Chinese study tracking myotonic dystrophy type 1 outcomes
This study follows people with myotonic dystrophy type 1 (DM1) over time to learn more about how the disease progresses. It collects health information and samples to help improve care.
Beijing, Beijing MunicipalityAges Any age - NCT06087315Recruiting
Study of oxygen use in children's hospitals
This study looks at how hospitals in six countries use pulse oximeters and oxygen therapy to treat children. It aims to find ways to improve oxygen delivery and care for children with serious illnesses.
Phnom PenhAges birth–15 years - NCT06081348RecruitingPhase 2
Sertraline vs. placebo for anxiety in kids with developmental disorders
This trial compares sertraline (a common antidepressant) to a placebo (a pill with no medicine) to see which better reduces anxiety in children and teens who also have a neurodevelopmental disorder like autism, ADHD, or Tourette's. The goal is to help you and your child understand if this treatment might offer relief from anxiety.
Calgary, AlbertaAges 8–17 - NCT06094205Recruiting
BrainGate2 speech study for people with tetraplegia
This study tests a brain-computer interface to help people with severe paralysis communicate by decoding attempted speech or movements. It may offer a new way to interact with devices using only brain signals.
Sacramento, CaliforniaAges 18–80 - NCT06096675Recruiting
Physical activity study for cardiac amyloidosis patients
This study tests whether a 12-week supervised exercise program is safe and helpful for people with cardiac amyloidosis and heart failure. It aims to see if regular exercise can improve how you feel and function.
Charlotte, North CarolinaAges 18 years+ - NCT06093100Recruiting
Wearable device study for Duchenne muscular dystrophy
This study uses a wearable device to track blood sugar levels and heart rate in people with Duchenne muscular dystrophy. It aims to understand how these factors relate to heart health over time.
Nashville, TennesseeAges 10 years+ - NCT06088589Recruiting
Speech-in-noise in autism and fragile x
This study measures how well people with autism or fragile X syndrome perceive speech in noisy settings, compared to typically developing individuals. It uses EEG to understand brain activity during listening tasks.
Cincinnati, OhioAges 15–35 - NCT06098833RecruitingPhase 2
Sildenafil for newborn brain injury after birth asphyxia
This trial tests whether a liquid form of the medicine sildenafil can help repair brain damage in newborns who had a difficult birth and were treated with cooling. If your baby meets the cooling criteria and has brain injury on an MRI, this study may offer an additional treatment option.
Denver, ColoradoAges birth–2 days - NCT06096688Recruiting
Finding new ways to lower colorectal and endometrial cancer risk
This study looks for new ways to lower the risk of colorectal and endometrial cancers. It collects tissue and information from people who are getting certain procedures or treatments at Weill Cornell Medicine.
New York, New YorkAges 18 years+ - NCT01137643Recruiting
Sharing blood and tissue samples for blood cancer research
This trial collects tissue, blood, and other body fluid samples from people with blood-related cancers. The goal is to help researchers study these diseases by building a source of samples for future testing.
Chapel Hill, North CarolinaAges 18–120 - NCT05726591Recruiting
Robotic exoskeleton study to improve walking in children
This study looks at how safely using a pediatric robotic exoskeleton over the long term can improve how children walk. It’s for children ages 3–17 who have certain movement or spine-related conditions and who can meet walking and joint-movement requirements.
Bethesda, MarylandAges 3–17 - NCT05829668Recruiting
Behavior plan study for children with Cornelia de Lange syndrome
This study tests a structured behavior assessment and treatment program for children with Cornelia de Lange syndrome who have challenging behaviors. It may help reduce self-injury, aggression, and disruptive behavior through a plan families can carry out.
Baltimore, MarylandAges 3–15 - NCT05600764Recruiting
Study of how TRPV4 nerve disease develops over time
This study looks at the natural history of TRPV4-related neuropathy—how it starts and changes over time. It may help doctors better understand the condition, especially for people with TRPV4 gene changes.
Baltimore, MarylandAges 3–80 - NCT01851642Recruiting
Study how lung disease affects white blood cells
This study looks at how lung disease changes a type of blood cell called white blood cells. It may help researchers understand what’s happening in the lungs and how to better monitor or treat lung problems.
Gainesville, FloridaAges 18 years+ - NCT05268107RecruitingPhase 4
Study dupilumab skin effects in different ethnic groups
This Phase 4 study looks at how dupilumab works in people with moderate-to-severe atopic dermatitis (eczema), and whether the mechanism differs across ethnic backgrounds. If you’re eligible, it may help doctors understand who benefits most from dupilumab.
Ann Arbor, MichiganAges 18 years+ - NCT06064825Recruiting
Long-term follow-up for TREOCAPA study children
This study is a long-term check-up for children who were in the TREOCAPA trial. It follows their health and development for about 2 years after they were in the original study.
AngersAges 1.9 years–2.3 years - NCT06057181Recruiting
Helix research network for adults
This study is a research network that collects health information from adults to better understand health and disease. It is open to most adults who are willing to follow the study procedures.
Fort Wayne, IndianaAges 18 years+ - NCT06079398RecruitingPhase 2
Weekly injection for infants with achondroplasia
This trial tests a new weekly injection called TransCon CNP for infants with achondroplasia (the most common form of dwarfism). The goal is to see if it can help children grow better than a placebo (a shot with no medicine).
Saint Paul, MinnesotaAges birth–2 years - NCT06078553Recruiting
Natural history study of congenital myasthenic syndromes (CMS)
This study follows people with congenital myasthenic syndrome (CMS) caused by changes in certain genes (DOK7, MUSK, AGRN, or LRP4) over time. It does not test any new drug, but helps researchers understand how the condition changes and how to plan future treatments.
Sacramento, CaliforniaAges 2 years+ - NCT06075537Enrolling by invitationPhase 2/Phase 3
Long-term safety study of a MPS II treatment
This study is for people with MPS II (Hunter syndrome) who have already completed a previous Denali study. It will test a drug called tividenofusp alfa (DNL310) over a longer period to see how safe it is and how well it works.
Oakland, CaliforniaAges Up to 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.