Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,859 recruiting studies in this area right now.
By phase
- Not applicable2,773
- Phase 2283
- Phase 1236
- Phase 3215
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis128
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- 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
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,859 total
- NCT04998396RecruitingPhase 1/Phase 2
Gene therapy trial for Canavan disease in young children
This Phase 1/2 trial tests an AAV9 gene therapy to treat Canavan disease. It aims to improve disease-related findings in children whose genetic test confirms ASPA gene changes.
Oakland, CaliforniaAges Up to 2.5 years - NCT05003986RecruitingPhase 2
Sparsentan for children with protein leaking kidney diseases
This Phase 2 study tests sparsentan in children with certain kidney diseases that cause high amounts of protein in the urine. It aims to see if the medicine can reduce kidney damage signals and protein leakage compared with standard care.
Los Angeles, CaliforniaAges 1–17 - NCT05004129RecruitingPhase 2/Phase 3
Tideglusib for genetic childhood myotonic dystrophy
This trial studies how safe and effective tideglusib is for children and young adults with congenital or childhood-onset myotonic dystrophy type 1 (DM1). It may help researchers learn whether the medicine improves symptoms while tracking side effects closely.
Little Rock, ArkansasAges 6–45 - NCT05007990Recruiting
Interview study of caregiving networks over a person’s life
This study uses interviews and questionnaires to better understand who makes up a caregiver’s support network when caring for someone with a long-term health condition. Your answers may help researchers understand how caregiving changes over time and across different health situations.
Bethesda, MarylandAges 18–100 - NCT05010031RecruitingPhase 2
Lower-dose radiation for metastatic cancer with an ATM mutation
This trial tests whether giving a lower dose of radiation can help control metastatic tumors that carry a specific genetic change in the ATM gene. It may reduce side effects by using less radiation, while still aiming to keep the tumor under control.
Basking Ridge, New JerseyAges 18 years+ - NCT05012033Recruiting
Study how high-dose steroids move through the body
This study measures blood levels of high-dose steroid medicines (prednisolone or related steroids) to understand how the body processes them in different real-life situations. It may help improve how steroids are dosed and monitored for people needing short-term or longer-term anti-inflammatory treatment.
LondonAges 18–75 - NCT05012111Recruiting
Study of bone marrow failure causes over time
This study looks at the natural history (how a condition progresses) in people with acquired or inherited bone marrow failure syndromes, including related lung and liver findings in some cases. It helps researchers understand underlying causes—sometimes linked to gene or telomere changes—and how symptoms evolve, which may guide future care.
Bethesda, MarylandAges 2–99 - NCT05012475Recruiting
Test whether video games help arm movement in Rett syndrome
This trial looks at whether computer gaming can improve how well you can use your arms to control game actions in Rett syndrome. It checks whether the gaming tasks can be done safely based on your arm movement range.
Washington D.C., District of ColumbiaAges 4–60 - NCT05013944Recruiting
Join a patient registry to support future research
This trial is a “patient registry,” which collects health information over time to help researchers plan and run future studies. It may help by contributing your experience so new treatments can be tested more effectively.
Arlington Heights, IllinoisAges 18 years+ - NCT05014178Recruiting
Kidney salt imaging scan with MRI
This study uses an MRI scan to look at how your kidneys handle salt (sodium). It may help researchers better understand kidney function in healthy people and in people with chronic kidney disease.
London, OntarioAges 18 years+ - NCT05017766Recruiting
Study for infections from antibiotic-resistant bacteria
This study looks at new ways to fight antibiotic-resistant bacteria in people with certain common infections. It may help by testing approaches tailored to the specific germs found in your urine, lungs, or deeper infections.
BaselAges 18 years+ - NCT05020002Recruiting
Checking RNA markers in blood and muscle in muscle disease
This study looks for tiny RNA “signals” in blood (and sometimes urine) and compares them with muscle samples in people with myotonic dystrophy (DM1 or DM2) and healthy controls. The goal is to find biomarkers that may help track the disease over time.
Boston, MassachusettsAges 5 years+ - NCT05019625Recruiting
Study samples for biomarkers in myotonic dystrophy
This study collects blood and, for some people, muscle tissue to look for signs (biomarkers) that can help track and better understand myotonic dystrophy. You may help by providing samples and basic muscle function testing, depending on your age and condition type.
Boston, MassachusettsAges 5 years+ - NCT05026554Recruiting
Study of long-term eczema on hands
This trial studies chronic hand eczema (and sometimes related atopic skin disease) to better understand your condition and what may be going on in the skin. You may be asked to follow a study plan for a set period and avoid certain treatments just before joining.
Montreal, QuebecAges 18–65 - NCT05030337Recruiting
Closed-loop oxygen control for very preterm babies on ventilators
This trial tests a computer-guided (“closed-loop”) oxygen control system for very preterm babies who need breathing support. It aims to keep oxygen levels safer and more consistent than standard care.
LondonAges Any age - NCT05034172Recruiting
Study of markers in inherited movement disorders
This study looks for biological “markers” (measurable signs in the body) in people with inherited movement disorders, and in some related family members or healthy volunteers. It may help researchers better understand these conditions, especially for future diagnosis and care.
ParisAges 7 years+ - NCT05037461Recruiting
MR-guided radiation for pancreas tumors in MEN1 patients
This study tests a precise, MRI-guided radiation plan for certain small pancreas neuroendocrine tumors in people with MEN1. It may help control tumor growth when surgery is needed or when remaining small tumor spots are left after prior surgery.
UtrechtAges 18 years+ - NCT05038462Recruiting
Fetal care study for babies with slow growth
This study looks at therapies meant to support brain development in babies whose growth is slower than expected before birth. It enrolls pregnancies in a specific time window and uses ultrasound/Doppler testing to make sure the baby is not likely needing delivery immediately.
BarcelonaAges 18 years+ - NCT05040178Recruiting
Study of Carbaglu® use for MMA and PA
This observational study looks at how Carbaglu® is used and how well it works for people with methylmalonic acidemia (MMA) or propionic acidemia (PA). It may help doctors understand real-world care for adults and children living with these conditions.
Washington D.C., District of ColumbiaAges Any age - NCT05040373Recruiting
Pregnancy follow-up after patisiran exposure
This program tracks pregnancy outcomes for people who were exposed to patisiran (a medicine) in a special delivery form called LNP during pregnancy or shortly before. It helps doctors understand potential effects and safety for mothers and babies.
Iowa City, IowaAges Any age - NCT05042258RecruitingPhase 4
Dupilumab to improve sleep and itch in children with eczema
This trial studies whether dupilumab can improve daily body clock (circadian function), sleep, and itching in children with moderate-to-severe eczema that isn’t well controlled by creams. It may help kids who are having significant sleep trouble and ongoing itch.
Chicago, IllinoisAges 6–17 - NCT05051254Recruiting
Breathing muscle testing in children with breathing muscle weakness
This study looks at how hard it is for children to breathe and how their breathing muscles work, using specific breathing-related tests. It may help doctors better understand breathing problems and choose care more effectively.
ParisAges birth–17 years - NCT05052606Recruiting
Turner syndrome patient registry study
This is a registry study that collects health information from people who have Turner syndrome. It helps researchers better understand the condition and guide future care.
Aurora, ColoradoAges Any age - NCT05066633RecruitingPhase 3
Metoprolol added to standard care to prevent heart muscle damage
This trial tests whether adding metoprolol (a beta-blocker) to usual care can prevent or slow cardiomyopathy (heart muscle weakness) in people with Duchenne muscular dystrophy (DMD). It also checks for safety, especially effects on heart rate and rhythm.
Gdansk, Pomeranian VoivodeshipAges 8–17
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,859 recruiting medical genetics studies from the U.S. registry right now, out of 5,745 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.