Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,858 recruiting studies in this area right now.
By phase
- Not applicable2,772
- Phase 2282
- Phase 1235
- Phase 3215
- Phase 1/Phase 2204
- Phase 497
- Phase 2/Phase 353
Top conditions
- Sickle Cell Disease140
- Atopic Dermatitis129
- Congenital Heart Disease86
- Cystic Fibrosis78
- Down Syndrome54
- 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
- California340
- Maryland161
- Alabama132
- Massachusetts116
- New York84
- Arizona79
- Texas73
- Minnesota67
- Pennsylvania65
- Ohio57
Recruiting studies3,858 total
- NCT02936791Recruiting
Study of early inherited kidney cysts and healthy volunteers
This observational study follows people early in autosomal dominant polycystic kidney disease (ADPKD) and also some healthy volunteers to learn how the kidneys work over time. It may help researchers understand early changes, which could guide future treatments.
Chicago, IllinoisAges 4–35 - NCT03240653Recruiting
Study to sort people with Gaucher disease into groups
This study looks at people with Gaucher disease (types I, II, or III) to better “group” patients for understanding and future research. If you (or your child) have confirmed Gaucher disease, you may be asked to share information and follow a study schedule.
BirminghamAges Any age - NCT03131726RecruitingPhase 3
Simvastatin for Graves eye disease in mild-to-moderate cases
This trial tests whether simvastatin (a cholesterol medicine) can improve eye symptoms from Graves’ eye disease. It is aimed at people with active mild-to-moderate disease and will also check safety with blood tests, heart/skin tolerance, and stomach health.
MalmöAges 18–70 - 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 - 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 - NCT07280091Recruiting
Skin and gut bacteria in Netherton syndrome
This study looks at the bacteria on the skin and in the gut of people with Netherton syndrome, a condition that affects the skin barrier and often causes allergies. It also compares these findings to healthy volunteers to understand how the microbiome might be different.
Paris, Île-de-France RegionAges 10 years+ - NCT05685238RecruitingPhase 3
Long-term study of mim8 for hemophilia a
This study tests the long-term safety and effectiveness of the experimental drug mim8 for people with hemophilia A. Depending on the arm, participants may have previously been in a mim8 study, or be infants who have never been treated or had very little treatment.
Los Angeles, CaliforniaAges Any age - NCT06534359Recruiting
Gastric vs transpyloric feeding for BPD
This study compares two ways of feeding premature babies with lung disease (BPD) who still need breathing support: feeding through a tube into the stomach (gastric) versus past the stomach into the small intestine (transpyloric). The goal is to see which feeding method helps these babies grow better and avoid problems.
Palo Alto, CaliforniaAges 1 month–1 year - NCT05432349Recruiting
Rett syndrome genetic registry for MECP2 changes
This trial is a registry that collects health and genetic information from people with Rett syndrome. It may help researchers better understand how MECP2 loss-of-function changes lead to symptoms and how to support patients.
Birmingham, AlabamaAges birth–99 years - NCT06832280Recruiting
Helping parents support their child with hypospadias
This study tests a program to help parents feel more supported when their young child is diagnosed with hypospadias. You and your child may be able to join if you are a parent or guardian, your child is under 6, and you have an upcoming urology visit to discuss hypospadias.
Indianapolis, IndianaAges Any age - NCT06940830RecruitingPhase 4
Long-term joint health study with efanesoctocog alfa
This study checks how well efanesoctocog alfa (a preventive factor VIII treatment) protects your joints over time in people with hemophilia A. It involves regular checkups, joint assessments, and tracking of any bleeding episodes.
ZagrebAges Any age - NCT07675798Recruiting
Caudal block for reducing fistula after hypospadias repair
This study tests whether a numbing injection into the lower back (caudal block) reduces the risk of a leak or fistula after hypospadias repair surgery in young boys. It may help your child have fewer complications and a smoother recovery.
Diyarbakır, Eyalet/YerleşkeAges 6 months–5 years - NCT06357182RecruitingPhase 1
New drug combo for AML patients who can't have strong chemo
This trial tests a new drug combination (iadademstat plus azacitidine and venetoclax) for people with newly diagnosed AML who cannot have or do not want standard intensive chemotherapy. The goal is to see if adding iadademstat makes the treatment work better.
Portland, OregonAges 18 years+ - NCT07674758Recruiting
Understanding heart risk in Duchenne and Becker muscular dystrophy
This study looks at heart health in people with Duchenne or Becker muscular dystrophy to find better ways to predict and track heart problems. The goal is to improve future treatment trials.
Sacramento, CaliforniaAges Any age - NCT06168201Recruiting
Virtual study on achondroplasia in the US
This study uses a virtual (online) approach to better understand achondroplasia across all ages. By collecting medical records from people in the US, researchers hope to learn more about the condition and improve care.
Oakland, CaliforniaAges birth–18 years - NCT06754852RecruitingPhase 1/Phase 2
Study of HMB-002 for von Willebrand disease
This study tests a new medicine called HMB-002 for people with von Willebrand disease. It aims to see if the drug can help control bleeding without needing regular preventive treatments.
Phoenix, ArizonaAges 16–69 - NCT06625190RecruitingPhase 1/Phase 2
Half-matched transplant with zoledronic acid for resistant solid tumors
This trial tests a new approach using a special type of transplant (with cells from a half-matched family donor) plus a drug called zoledronic acid. It is for children and young adults with certain solid tumors that have not responded to standard treatments.
Gainesville, FloridaAges 6 months–25 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+ - 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 - NCT02283229Enrolling by invitation
Early newborn head shaping after birth study
This study looks at how gently shaping a newborn’s head in the first days after birth might affect head shape later. It may help researchers understand how to reduce uneven head shape in babies.
OuluAges 1 day–6 days - NCT02422875Enrolling by invitation
Study of immune markers in autoimmune disease and lupus
This study looks at blood and immune cell markers (autoantibodies and immune cell “signatures”) to better understand autoimmune conditions, including lupus. It may help researchers identify which markers are linked to disease and how immune cells respond after vaccination.
Atlanta, GeorgiaAges 18 years+ - NCT02402660Enrolling by invitationPhase 2
Test ALK-001 for Stargardt disease eye changes and comfort
This Phase 2 study tests how well ALK-001 is tolerated and whether it can slow or improve vision-related changes in people with Stargardt disease. It mainly looks at safety (tolerability) and signs in the eye over about 24 months.
Phoenix, ArizonaAges 8–70 - NCT02413450Enrolling by invitation
Using patient DNA cells to study inherited heart rhythm risks
This study uses your blood or genetic information to make “iPS cells,” lab-grown cells that can help researchers study inherited heart rhythm problems like LQTS, Brugada syndrome, CPVT, or early repolarization syndrome. It may help improve understanding of why these rhythms happen and guide future treatments.
Baltimore, MarylandAges 18–85 - NCT02579044Enrolling by invitationPhase 1/Phase 2
Everolimus plus lonafarnib for children with progeria
This trial tests whether adding everolimus to ongoing lonafarnib improves health and slows complications in people with genetically confirmed progeria. It mainly checks safety and early signs of benefit in Phase I/II.
Boston, MassachusettsAges 1.5 years–25 years
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,858 recruiting medical genetics studies from the U.S. registry right now, out of 5,795 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.