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
- NCT07398508RecruitingPhase 1/Phase 2
Northera for dizziness and diarrhea in Menkes disease survivors
This trial tests if the drug Northera (droxidopa) can help children with Menkes disease who have dizziness when standing or chronic diarrhea. It aims to improve these symptoms by supporting blood pressure and bowel function.
New York, New YorkAges 7–17 - NCT07398872Enrolling by invitationPhase 1
Gene therapy trial for children with ML4
This trial tests a gene therapy given by a one-time injection into the spinal fluid for children with Mucolipidosis type IV. It aims to see if the therapy is safe and can help slow or stop the disease.
Hangzhou, ZhejiangAges 1.5 years–8 years - NCT07406139RecruitingPhase 4
PCC treatment for hemophilia A with inhibitors
This trial tests a clotting factor product called PCC (prothrombin complex concentrate) to treat bleeding episodes in people with hemophilia A who have developed inhibitors. It's for those who are 12–65 and have frequent joint bleeds.
Tianjin, Tianjin MunicipalityAges 12–65 - NCT07400224RecruitingPhase 1/Phase 2
New PET imaging test for cancer, heart, or immune disease
This study tests a new type of PET scan using a special tracer called Al18F-NOTA-FAPI-04 to see if it can better detect cancer, heart disease, or immune system conditions. The goal is to find out how well this imaging method works for diagnosis or monitoring of these diseases.
BeijingAges 18–88 - NCT07405333Recruiting
Coughing exercises vs breathing device after heart surgery in children
This study compares simple coughing exercises with a breathing device (incentive spirometry) to help children recover lung function faster after heart surgery. It may help reduce complications and shorten hospital stays.
Baghdad, Baghdad GovernorateAges 6–18 - NCT07400198Recruiting
Walking and Bone Health Study for SMA
This study looks at walking and bone health in people with spinal muscular atrophy (SMA). It helps researchers understand how SMA affects your gait (the way you walk) and your bones, which could lead to better treatments.
New York, New YorkAges 8–50 - NCT04782232Recruiting
Study of a new blood tube for heart pump patients
This registry study checks whether a new venous blood tube used with a heart pump is safe and practical for people whose right heart is failing and who may need a heart transplant. If you qualify, your care team would monitor how the device works over time.
MunichAges Any age - NCT07390240Recruiting
Study of ALPL gene changes in hypophosphatasia
This study looks at how changes in the ALPL gene affect the symptoms and course of hypophosphatasia (HPP), a rare bone disease. It aims to understand the natural history of the disease in people who have one altered copy of the gene, which may help improve future care.
MoscowAges Any age - NCT07393373Enrolling by invitationPhase 2
Long-term study of infigratinib in children with hypochondroplasia
This study is for children with hypochondroplasia who already completed the ACCEL 2/3 trial. It tests the long-term safety and effects of the study drug infigratinib, and gives continued access to the treatment.
Oakland, CaliforniaAges 3–18 - NCT07390318Recruiting
Bowel continence study for people with spina bifida
This study looks at how bowel management enema programs work for people with spina bifida (a type of spinal cord condition). It aims to improve continence and quality of life.
Birmingham, AlabamaAges 5 years+ - NCT07392216Recruiting
Ovarian health in young women with sickle cell disease
This study looks at how sickle cell disease might affect the ovaries (the organs that store eggs) in girls and young women. It compares participants with sickle cell disease to healthy females of similar age and background.
Memphis, TennesseeAges 10–18 - NCT07396285Recruiting
Genome surgery biobank and registry study
This study collects information and samples from people with genetic conditions to help researchers learn more and develop new treatments. You can participate even if you are pregnant, a child, or a family member of someone with a genetic condition.
San Francisco, CaliforniaAges Any age - NCT07389343Recruiting
Semi-rigid foot insole for flat feet without pain
This study tests whether a semi-rigid shoe insert can help young adults with flexible flat feet that are not painful. If you have flat feet but not constant pain, this trial may help improve foot function.
GizaAges 18–35 - NCT07390136Recruiting
Brain development study for babies with and without early brain injury
This study looks at how babies' brains develop, comparing infants who had a brain injury around birth with healthy babies. It could help understand early thinking and learning abilities.
Madison, WisconsinAges 3 months–2 years - NCT06550687Recruiting
Studying how cancer patients like to learn about genetic results
This trial looks at the best ways to give cancer patients their genetic information before a special test called exome analysis. It aims to make sure you get the information in a way that feels right for you.
DijonAges 18 years+ - NCT06833489Recruiting
Using genetic testing to find answers for rare muscle diseases
This study looks at leftover muscle tissue from people who have had genetic testing for rare muscle diseases but didn't get a clear diagnosis. The goal is to use newer genetic analysis to find the cause of their disease.
MarseilleAges Any age - NCT05818319Recruiting
Tracking kidney urine effects after a short pause in CF therapy
This study checks how a common cystic fibrosis (CF) medicine affects urine markers after briefly stopping it and then restarting. The goal is to better understand whether the treatment shift changes kidney-related signals in people with CF.
Aarhus C, Central JutlandAges 18 years+ - NCT04766866Recruiting
Check two blood markers to help prevent preeclampsia
This trial tests whether measuring two pregnancy blood markers (sFlt1 and PlGF) and planning delivery timing can help prevent preeclampsia as you reach term. It may help reduce risk for mother and baby by guiding when to deliver based on test results.
LiègeAges 18 years+ - NCT06294990RecruitingPhase 4
Testosterone treatment for boys with Klinefelter syndrome in puberty
This trial tests if starting testosterone treatment during puberty (ages 10-14) helps boys with Klinefelter syndrome. It aims to understand how the hormone affects development and well-being.
CopenhagenAges 10–14 - NCT07388966Recruiting
Measuring limb movement in achondroplasia and hypochondroplasia
This study is tracking how people with achondroplasia or hypochondroplasia move their limbs in daily life using a small wearable device. The information will help doctors better understand these conditions and may lead to better care.
LiègeAges 2–65 - NCT07380490Recruiting
Comparing two heart-opening closure devices after a stroke or TIA
This trial compares two devices that close a small opening in the heart called a PFO, which can let clots pass and cause strokes. If you've had a stroke or mini-stroke with no other cause, this study might help prevent future ones.
Bad Oeynhausen, North Rhine-Westphalia (Nordrhein-Westfalen)Ages 18–65 - NCT04905537Recruiting
Genetic screening for newborns after a serious pregnancy loss
This trial looks at doing early genetic testing in newborns/early life cases after a serious pregnancy loss, to learn whether genetics can help understand why it happened. If you have the right timing and sample availability, the results may help future “more precise” care planning and research.
Shanghai, Shanghai MunicipalityAges Up to 3 months - NCT06836453Recruiting
New sweat test for cystic fibrosis diagnosis
This trial tests a new device that measures how your sweat glands react to a common asthma medication. It aims to better classify people with cystic fibrosis or related diseases, and also includes healthy volunteers and carriers.
BrusselsAges Any age - NCT07381985Enrolling by invitation
Managing hereditary cancer risk in rural areas
This study tests a way to help people with inherited cancer gene mutations manage their health, especially if they live in rural areas. You join if you found out about the mutation more than a year ago.
Burlington, VermontAges 18 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.