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
- NCT03083431RecruitingPhase 2
Oral propranolol to prevent early retinopathy in preemies
This trial tests whether giving propranolol by mouth to certain very premature babies with early eye changes can stop retinopathy of prematurity from getting worse. It may help reduce the need for eye treatments later on.
Tübingen, Baden-WurttembergAges 1 month–3 months - NCT03050268Recruiting
Study of childhood cancer risk in families
This study looks at inherited (family) risk for childhood cancers, including families with early cancers or known cancer risk conditions. It may help researchers understand why some children get cancer and improve future risk detection and care.
Memphis, TennesseeAges Any age - NCT03128996RecruitingPhase 1/Phase 2
Bone marrow transplant with lighter chemo for non-cancer illnesses
This early-phase study tests a safer “lighter” conditioning chemo plan before a bone marrow transplant for people with non-cancer blood and immune disorders. It aims to reduce transplant risk while using donor marrow that does not match perfectly in the HLA type.
New Haven, ConnecticutAges 1 day–21 years - NCT03139786Recruiting
Heart valve follow-up study for bicuspid aorta patients
This study follows patients who have a bicuspid aortic valve—a heart valve with two leaflets instead of three. Researchers track how this condition changes over time to better understand its long-term effects and help guide future care.
Amiens, PicardieAges 18 years+ - NCT03138863Recruiting
FETO surgery to help a baby’s lungs in left diaphragmatic hernia
This trial studies a specialized pregnancy procedure (FETO) done to help babies with a defect in the diaphragm called congenital diaphragmatic hernia (CDH) grow better lungs before birth. It may help by improving lung development, based on how severe the baby’s lung underdevelopment looks on ultrasound, and it requires close follow-up at the study hospital.
Miami, FloridaAges 18–50 - NCT03198702RecruitingPhase 3
Early botulinum shots to prevent shoulder shape problems
This trial tests whether early injections of botulinum toxin into a baby’s arm muscles can prevent the shoulder from changing shape in infants with obstetrical brachial plexus palsy (OBPP). It also checks that the injections are safe and effective over time.
BrestAges 10 months–11 months - NCT03161808Recruiting
CF rare mutation blood and tissue sample collection study
This study collects cells from people with cystic fibrosis (CF) caused by rare CFTR gene changes. The goal is to build a cell bank for future research, which may help scientists develop better tests and treatments for rare CF types.
Birmingham, AlabamaAges 17 years+ - NCT03291392Recruiting
CUHK stroke biobank for blood, fluid, and tissue samples
This study builds a research bank using samples from people with stroke, their family members, and some people without narrowing in their blood vessels. Your samples help researchers study stroke and related brain and vessel changes.
Hong KongAges 18 years+ - NCT03107520RecruitingEarly Phase 1
Ultrasound during hip surgery to check blood flow
This early-phase study tests a special ultrasound with an added contrast medicine (Lumason) during surgery for babies with developmental dysplasia of the hip (DDH). It aims to better see blood flow at the time of surgery, which may help guide and improve care.
Philadelphia, PennsylvaniaAges 4 months–2 years - NCT03065686Recruiting
Study genes in cleft lip or palate without a known cause
This study looks for genetic reasons behind cleft lip and/or cleft palate when the cause is not known. The results may help researchers understand risk factors and improve future care.
AmiensAges Any age - NCT03190837Recruiting
Long-term study for people with Gaucher disease
This study is designed to learn what happens over time in people who have Gaucher disease. It may help researchers understand the long-term effects of the condition and improve future care.
Durham, North CarolinaAges Any age - NCT03102554Enrolling by invitation
Study genes in sex development differences and hypospadias
This study looks for genetic causes of differences in how a baby or child’s sex organs develop, including hypospadias. You may be able to join if doctors can’t find a reason using standard testing.
Boston, MassachusettsAges Any age - NCT02890641Recruiting
Study of brain signals and genes in hard-to-treat epilepsy
This study looks at genetic factors and brain electrical activity in children whose seizures are difficult to control with standard medicines. It also involves exams like MRI and possibly procedures under anesthesia, to better understand seizure causes and help future care.
ParisAges 3 months–25 years - NCT02744677Recruiting
Pulmonary valve procedure to improve blood flow issues
This trial studies a transcatheter pulmonary valve (a valve placed through a catheter) in people whose right-sided outflow tract valve/conduit is not working well. It aims to improve blood flow and reduce pressure problems, while checking safety and results after the procedure.
Birmingham, AlabamaAges Any age - NCT02748408Recruiting
Long-term follow-up after total hip replacement for severe hip pain
This study tracks people for many years after they get their first total hip replacement due to severe hip problems. It helps doctors understand how well the implant works and how patients recover over time.
ViennaAges 18–75 - NCT02795052Recruiting
Stem cell treatment trial for nerve injury
This study tests whether bone-marrow stem cells can improve nerve function in people with nerve damage that usually doesn’t recover with current care. It also checks whether the treatment is safe and whether people can be followed over time with repeated nerve exams.
Westport, ConnecticutAges 18 years+ - NCT03011541Recruiting
Stem cell treatment for damaged retina or optic nerve
This study looks at stem-cell treatment to help vision in adults whose retina or optic nerve damage is not expected to improve on its own. You may be a candidate if your eye exam shows documented, stable or slowly changing damage and you can safely complete follow-up eye visits.
Westport, ConnecticutAges 18 years+ - NCT02716246RecruitingPhase 2/Phase 3
Gene therapy for MPS IIIA to slow brain decline
This trial tests a gene-transfer treatment (delivered into the spinal fluid) for children with MPS IIIA, a rare genetic condition. It aims to improve or slow down brain and developmental changes caused by a missing enzyme.
Columbus, OhioAges Any age - NCT02796937Enrolling by invitationPhase 3
Long-term safety study of a blood protein for Alpha-1
This study checks how safe a prescribed blood protein medicine (alpha-1 proteinase inhibitor) is over the long term in people with Alpha-1 antitrypsin deficiency. You may join if you already finished an earlier study or if your lung function has been declining.
Phoenix, ArizonaAges 20–72 - NCT03000244Recruiting
Long-term follow-up after stem cell or gene therapy
This study checks how people do long-term after stem cell transplant, cellular therapy, or gene therapy. It may help doctors track longer-term health effects and recovery and improve future care.
Bethesda, MarylandAges 4–120 - NCT02974595Recruiting
Study of rare inflammatory conditions to learn what causes them
This study follows people with rare “autoinflammatory” conditions and sometimes their blood relatives to understand why symptoms happen and how they change over time. It may help by improving diagnosis and care for these conditions, using stored samples and genetic testing.
Bethesda, MarylandAges Up to 99 years - NCT02890342Recruiting
Studying Propionic Acidemia, gut bacteria, and body chemistry over time
This study follows people with propionic acidemia to better understand how the body, diet, gut bacteria, and blood chemistry change over time. It may help researchers learn more about the condition and how pregnancy, transplant, and daily life affect health.
Bethesda, MarylandAges 1 month–100 years - NCT02995538Recruiting
Registry for people with suspected genetic nerve disorders
This registry collects health and family history from people who may have an inherited (genetic) neurological condition. It helps researchers understand what genetic causes are involved and may lead to better future care.
Pittsburgh, PennsylvaniaAges Any age - NCT02964494Recruiting
Congenital anemia registry for congenital dyserythropoietic anemia
This study is a registry that collects medical and lab information from people with congenital dyserythropoietic anemia (CDA), a lifelong type of anemia that can cause jaundice. It helps doctors better understand the condition and its causes, including in families where it runs.
Cincinnati, OhioAges Any age
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.