Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,756 recruiting studies in this area right now.
By phase
- Not applicable2,677
- Phase 2277
- Phase 1238
- Phase 3210
- Phase 1/Phase 2208
- Phase 497
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis125
- Congenital Heart Disease84
- Cystic Fibrosis76
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- Duchenne Muscular Dystrophy37
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)28
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
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
- Massachusetts General Hospital22
Where studies are running
- California325
- Maryland161
- Alabama133
- Massachusetts107
- Arizona86
- New York85
- Texas70
- Minnesota68
- Pennsylvania62
- Florida59
Recruiting studies3,756 total
- NCT02638389RecruitingPhase 3
Sirolimus for hard-to-treat vascular birthmarks
This Phase 3 study tests whether sirolimus helps control complex vascular anomalies that have not responded to standard treatments. It also checks safety by monitoring blood tests, organ function, and overall health during treatment.
Brussels, Brussels CapitalAges 3 months–70 years - NCT05734378Recruiting
Study aims to predict outcomes in small blood vessel brain disease
This trial is looking at how brain “small blood vessel disease” changes over time and what outcomes to expect. If you have certain symptoms or scan findings from this condition, your care team may compare your prognosis to help guide future treatment planning.
BernAges 16 years+ - NCT02912143Recruiting
Hemophilia pediatric research registry database
This trial is a research registry that enrolls children with hemophilia A or B to collect health information. It may help researchers better understand bleeding risk and treatment needs over time.
Frankfurt am Main, HesseAges Up to 18 years - NCT02923440Recruiting
Donate DNA and help build a congenital heart study database
This study creates a DNA bank and a French database for babies and children with certain types of congenital heart defects, to better understand genetic causes. You’ll be asked to have a blood test and share consent, even though care can continue as usual at the study hospital.
MarseilleAges Any age - NCT05765981RecruitingEarly Phase 1
Testing a gene therapy for AADC deficiency in young children
This early-stage trial tests VGN-R09b, a gene therapy, given to children with AADC deficiency who are not doing well on standard medicines. It aims to improve symptoms and quality of life by addressing the underlying cause of AADC deficiency.
Shanghai, No. 1678, Dongfang Road, Pudong New Area, ShanghaiAges 2–7 - NCT05767203Recruiting
Study genetic and blood markers in people with inherited intellectual disability
This study looks at genetic-related and blood/biologic markers in people with an inherited (genetic) intellectual disability. The goal is to better understand these differences and how they might relate to the condition.
ParisAges Any age - NCT05767216Recruiting
Study of genetic and epigenetic differences in twin pairs with Down syndrome
This study looks at how genetics and gene-regulation (how genes turn on and off) differ between close family members who have different Down syndrome status. Researchers hope the findings will help explain why Down syndrome outcomes can vary even in very closely related people.
ParisAges 4–11 - NCT05775679Recruiting
CLEFT-Q survey study for people with cleft lip or palate
This study tests how consistently and clearly a questionnaire (CLEFT-Q) measures your symptoms and how well treatment helps. It may help researchers improve care for people who need a planned second surgery for the nose, lips, jaw, or speech.
Malmö, Skåne CountyAges 8–29 - NCT03466463Recruiting
Gene therapy for severe Crigler-Najjar liver jaundice
This trial studies a gene therapy for people with severe Crigler-Najjar syndrome, a condition that causes high bilirubin (jaundice) due to a UGT1A1 gene change. It may help reduce the need for constant bilirubin-lowering treatment like phototherapy.
ClamartAges 9 years+ - NCT03052283Recruiting
Abdominal symptom score test for people with cystic fibrosis
This trial helps create and check a patient-friendly questionnaire that measures abdominal (belly) involvement in cystic fibrosis. It may help your care team better track symptoms over time.
Brandenburg an der HavelAges Any age - NCT05797272Recruiting
In-utero stem cell treatment for Bart’s hydrops
This trial studies whether giving hematopoietic (blood-forming) stem cells while the baby is still in the womb can treat fetuses with Bart’s hydrops fetalis syndrome. It aims to improve outcomes after prenatal intervention in carefully selected pregnancies.
ShatinAges 18 years+ - NCT05757245RecruitingPhase 1
Safety and effectiveness of GMCN-508A for transfusion-dependent alpha thalassemia
This Phase 1 study tests a new medicine (GMCN-508A) to see how safe it is and whether it can help people with transfusion-dependent alpha thalassemia. Participants are also expected to follow a treatment plan that includes stem cell transplantation preparation.
Nanning, GuangxiAges 5–35 - NCT01653223Recruiting
Simvastatin to protect the heart during heart surgery
This trial looks at whether simvastatin (a cholesterol medicine) can help protect the heart during cardiac surgery. You might be invited if you’re having surgery for certain, non-complex heart conditions, but not if you have some specific related health problems.
Guangzhou, GuangdongAges 18 years+ - NCT00390104Recruiting
Study uses blood and skin samples to learn muscular disease causes
This study looks at samples from people with muscular dystrophy and from close relatives, to better understand neuromuscular diseases. You may be asked to provide a skin biopsy for research to help with genetic and molecular analysis.
Boston, MassachusettsAges 1 week–100 years - NCT05832580RecruitingPhase 3
Preventing calcium buildup in skin, eyes, and blood vessels
This Phase 3 study tests a medicine to help prevent abnormal calcium (called ectopic mineralization) from building up in people with pseudoxanthoma elasticum (PXE). It aims to slow or reduce new damage over time.
UtrechtAges 18–50 - NCT05838079Recruiting
Baby heart study for families affected by diabetes
This study looks at how diabetes during pregnancy affects children’s or babies’ heart health over time. It may help researchers understand risks early, especially for families with a diabetes history during pregnancy.
Copenhagen ØAges 1 day–99 years - NCT05688488RecruitingPhase 1/Phase 2
Curcumin to help prevent vocal cord scar adhesions after surgery
This trial tests whether curcumin (a natural compound) can reduce scar-like “adhesions” that can form between both vocal cords after endoscopy surgery. If you’re having a procedure on both vocal cords, this could help lower the chance of postoperative sticking and related voice problems.
Shanghai, Shanghai MunicipalityAges 18–75 - NCT05762510RecruitingEarly Phase 1
Testing a gene-based treatment for transfusion-dependent thalassemia
This early study tests the safety and potential benefit of the LentiRed gene-based drug in people with transfusion-dependent beta-thalassemia (TDT) who are planning an autologous stem cell transplant. It may help reduce the severity of anemia, but the main goal at this stage is to check safety and side effects.
Nanning, GuangxiAges 5–35 - NCT05392894RecruitingPhase 3
Transplant using a half-matched donor for severe sickle cell
This trial tests whether a half-matched (haploidentical) blood stem cell transplant can treat adults with severe sickle cell disease. It may help reduce serious complications and improve survival, but it requires a fit health status and specific donor and medical conditions.
LondonAges 18 years+ - NCT05876416Recruiting
Study genetics of rare bone growth disorders
This study looks at genetic causes of skeletal (bone growth) disorders in people who show signs based on height and bone imaging. Genetic testing may help explain what’s behind the condition, especially when it seems inherited.
StockholmAges Any age - NCT05884892Recruiting
Join a heart condition registry for hypertrophic cardiomyopathy
This program builds a registry of people diagnosed with hypertrophic cardiomyopathy and their family members. By collecting health information over time, researchers hope to better understand the condition and improve care.
AswānAges Any age - NCT05331105RecruitingPhase 2
Drug for adults with NF1 and non-surgically treatable nerve tumors
This Phase 2 trial tests HL-085 in adults with neurofibromatosis type 1 (NF1) who have a nerve tumor (plexiform neurofibroma) that cannot be removed by surgery and causes symptoms. It aims to shrink or control the tumor by measuring changes on MRI and monitoring side effects.
Shanghai, Shanghai MunicipalityAges 18–80 - NCT04695028Recruiting
Study to better understand crystal-related joint pain
This study looks at people with certain types of crystal deposits in joints (like gout, CPPD, or hydroxyapatite crystal disease). It uses scans such as ultrasound and a special CT-type scan called DECT to confirm and better understand what’s causing your symptoms.
LommeAges 18 years+ - NCT05924347Recruiting
Imaging study to spot early spine changes in at-risk children
This study uses MRI and physical measurements to look for early signs of scoliosis (a side-bending of the spine) in children who are at higher risk. It may help doctors understand when scoliosis starts and improve early monitoring.
UtrechtAges 8–11
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,756 recruiting medical genetics studies from the U.S. registry right now, out of 5,439 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.