Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,762 recruiting studies in this area right now.
By phase
- Not applicable2,682
- Phase 2280
- Phase 1239
- Phase 3209
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- 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
- Massachusetts107
- Arizona88
- New York84
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT07220603RecruitingPhase 2
Long-term safety study for people with myotonic dystrophy type 1
This is a follow-up study for people with myotonic dystrophy type 1 who already received the study drug PGN-EDODM1 in an earlier trial. It lets you continue treatment and helps researchers learn more about long-term safety and effects.
Calgary, AlbertaAges Any age - NCT07219485Enrolling by invitationPhase 3
Pitolisant for Prader-Willi syndrome in ongoing study
This study tests an oral medication, pitolisant, in people with Prader-Willi syndrome who have already been in a pitolisant study. It aims to see if continuing treatment is safe and effective.
Morrisville, North CarolinaAges 7 years+ - NCT07221292RecruitingPhase 3
Study of N-acetyl-L-leucine for CACNA1A disorders
This trial tests a potential treatment for people with CACNA1A disorders, which can cause movement problems, migraine, or seizures. The medication may help improve balance and coordination.
Baltimore, MarylandAges 4 years+ - NCT07218887RecruitingPhase 1/Phase 2
Gene therapy for BAG3-related heart failure
This study tests an experimental gene therapy called ALXN2350 for people with dilated cardiomyopathy caused by a specific genetic change in the BAG3 gene. It aims to see if the therapy can improve heart function and slow disease progression.
Birmingham, AlabamaAges 18–70 - NCT07220564RecruitingPhase 1
Study of a new medicine for haemophilia A
This study tests a new medicine called Inno8 in people with haemophilia A. It looks at how different doses work in the body and may help improve treatment options.
Aurora, ColoradoAges 18–64 - NCT06915649Recruiting
Understanding a specific brain surgery's results
This trial looks at the results of a specific type of brain surgery (amygdalo-hippocampectomy) done by Professor Coubes. It helps doctors better understand how the surgery works and how it affects patients.
Montpellier, HéraultAges Any age - NCT06776419Recruiting
Heart inflammation and scarring in Fabry disease
This study uses advanced heart scans (PET/CT and MRI) to look at inflammation, blood vessel health, and scarring in the hearts of people with Fabry disease. It aims to better understand how Fabry disease affects the heart and find new ways to track or treat these changes.
CopenhagenAges 18 years+ - NCT06915961Recruiting
HE4 Protein and Lung Function in Cystic Fibrosis
This study looks at a protein in the blood (HE4) and how it relates to lung function in children with cystic fibrosis. It also tests a quality improvement plan to help manage CF. The goal is to find better ways to track and treat the disease.
Cairo, AbbasiaAges 6 years+ - NCT07213063Recruiting
Creatine and HMB supplements for Down syndrome
This trial tests whether taking creatine and HMB supplements can improve muscle strength, reduce inflammation, and increase muscle mass in people with Down syndrome. It may help if you or your loved one can do basic physical tests like standing from a chair and do not have kidney disease or severe mobility issues.
Burgos, BurgosAges 18 years+ - NCT07213297Recruiting
Program for hereditary transthyretin amyloidosis
This trial is for people with a specific inherited form of amyloidosis caused by a change in the TTR gene. It offers a comprehensive care program to help manage this rare condition.
Canuelas, Buenos AiresAges 18 years+ - NCT07216664Recruiting
Early mouth care with human milk for very preterm babies
This study tests whether giving tiny amounts of human milk to the mouth early can help very preterm babies (born at 32 weeks or earlier) learn to feed better. It may reduce the time they need IV fluids or a feeding tube.
Maywood, IllinoisAges 5 months–7 months - NCT07217249Enrolling by invitation
Donor diabetes and cornea transplant success at 5 years
This study looks at how a donor's diabetes might affect the long-term success of a specific type of cornea transplant called DMEK. Participants from an earlier study (DEKS) will be followed for up to 5 years to see how well the transplant is doing.
Atlanta, GeorgiaAges 30–93 - NCT07219537Recruiting
Imaging the lower gut with a new capsule
This trial tests a new type of camera capsule that takes pictures of the lower part of your digestive tract. It may be an option for people who are healthy or have Lynch Syndrome and have had a recent normal colonoscopy.
Boston, MassachusettsAges 18–75 - NCT07220226Recruiting
Fontan circulation and venous compression study
This trial looks at how blood flow works in people with Fontan circulation, who have a unique heart surgery. It aims to understand vein compression and may help guide future care.
Dallas, TexasAges 18–45 - NCT07215416RecruitingPhase 1/Phase 2
Gene therapy for ataxia-telangiectasia with specific ATM mutation
This trial tests a new genetic medicine designed for people with A-T who have a specific ATM gene change. It aims to see if the treatment is safe and if it can improve symptoms.
Boston, MassachusettsAges birth–17 years - NCT07212764Enrolling by invitation
Tracking infections in kids with FMF using a phone app
This study tests whether a mobile app can help monitor infections in children and teenagers with Familial Mediterranean Fever (FMF). It aims to make it easier for families to track symptoms from home.
Istanbul, FatihAges 8–18 - NCT07220265Recruiting
PKU carriers: How high phenylalanine affects the brain
This study looks at how carrying one copy of the PKU gene might affect thinking and brain health in adults. It will help researchers understand if mild changes in a substance called phenylalanine can impact memory, focus, and brain scans.
Columbia, MissouriAges 18–60 - NCT07220239Recruiting
Menstrual cup for early cancer detection in Lynch syndrome
This study tests whether a menstrual cup can collect cells from the uterus to detect early endometrial cancer in women with Lynch syndrome. If you have Lynch syndrome and are due for a routine biopsy, you may be able to use a menstrual cup instead.
Boston, MassachusettsAges 18 years+ - NCT06918236Recruiting
Pregnancy after fertility treatment: study of outcomes
This study looks at pregnancy results for women who had fertility treatments (like IVF). You can join if your baby is alive on ultrasound and you are between 11 and 14 weeks pregnant.
PlevenAges 18 years+ - NCT06556615Recruiting
Quality of life in classical homocystinuria
This study surveys how classical homocystinuria (CBS deficiency) affects daily life and well-being. It includes patients age 8 and up, parents of younger or cognitively impaired children, and medical experts.
ZurichAges 8 years+ - NCT06705543Recruiting
Genetic study of complex heart defects in unborn babies
This study looks at the genetic material in the fluid around the baby (amniotic fluid) and in the placenta to better understand complex heart defects in unborn babies. The goal is to find new clues that could help doctors care for these babies before and after birth.
BordeauxAges 18 years+ - NCT06922370Recruiting
Study of bone and joint problems in Gitelman syndrome
This study looks at bone and joint problems in people with Gitelman syndrome, a rare kidney disorder. It aims to understand how this condition affects the body's bones and joints.
Hangzhou, ZhejiangAges Any age - NCT06741995Recruiting
Testing antibodies to predict heart muscle disease progression
This study looks at whether certain antibodies (proteins in your blood) can help predict how dilated cardiomyopathy will progress. By testing your blood, researchers hope to learn more about your condition and find better ways to manage it.
Wuhan, HubeiAges 18–75 - NCT06924125Recruiting
Natural history study for LAMA2 muscular dystrophy
This study follows people with LAMA2-related muscular dystrophy over time to better understand the condition. It may help with future treatments by learning more about how the disease progresses.
Barcelona, BarcelonaAges birth–100 years
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,762 recruiting medical genetics studies from the U.S. registry right now, out of 5,482 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.