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
- NCT05527093Recruiting
Brain-scan study mapping social thinking changes in epilepsy
This study uses special thinking and brain-scanning tests to understand how “social thinking” may change in people with certain types of epilepsy. You might benefit by having a detailed evaluation during your planned pre-surgery workup.
Gif-sur-YvetteAges 18–65 - NCT06887907Recruiting
Studying megakaryocytes in sickle cell disease
This trial looks at the cells that help make platelets (megakaryocytes) in people with sickle cell disease. By comparing these cells when you are feeling well and during a pain crisis or chest syndrome, researchers hope to learn more about the condition and find better treatments.
Toulouse, FranceAges 18 years+ - NCT05386173Recruiting
Tests fetal aortic valve balloon surgery for severe narrowing
This trial studies whether doing a procedure before birth to open a baby’s aortic valve improves outcomes. It compares this approach in a specific group of pregnancies with severe heart flow problems seen on ultrasound.
San Francisco, CaliforniaAges 5 months–7 months - NCT07277582RecruitingPhase 2/Phase 3
Study of a new medicine for long QT syndrome types 2 and 3
This study tests a new medicine called THRV-1268 to see if it can safely improve heart rhythm in people with Long QT syndrome types 2 and 3. It may help reduce the risk of dangerous heart rhythm problems.
Scottsdale, ArizonaAges 15 years+ - NCT04342234Recruiting
Neural network tool to measure cleft palate from scans
This trial studies a computer “neural network” that uses existing dental impressions, scans, and photos to measure cleft palate features. The goal is to reduce the amount of repeated cleft lip and palate clinic work for patients and families.
BaselAges Any age - NCT06805474Recruiting
Study of a vision test for Stargardt and geographic atrophy
This study tests a new way to measure vision, called MLSDT, in people with normal sight or vision loss from Stargardt disease or geographic atrophy (a type of advanced age-related macular degeneration). Results will help doctors better understand how well patients can see.
Dallas, TexasAges 18 years+ - NCT07274631Recruiting
Study of inflammatory lung diseases
This study collects information from people with various inflammatory lung conditions, like asthma or COPD, to better understand them and improve treatment. Healthy volunteers are also needed for comparison.
ReimsAges 18 years+ - NCT07278843Recruiting
Understanding vision loss in Usher syndrome type 1B
This study follows people with Usher syndrome type 1B over time to learn how vision loss progresses. It also tests new ways to measure functional vision, which may help design future treatments.
Paris, Île-de-France RegionAges 3–75 - NCT07273643Recruiting
Studying tiny particles in cord blood of very premature babies
This study looks at microscopic particles called extracellular vesicles in the umbilical cord blood of babies born before 28 weeks. Researchers want to see if these particles can help predict severe health problems or death, and eventually improve care for extremely premature newborns.
MontpellierAges birth–3 months - NCT07276087Recruiting
Physical and Mental Health in Takayasu Arteritis and Behçet's Disease
This study compares physical and mental health in people with Takayasu arteritis or Behçet's disease to healthy volunteers. It aims to better understand how these conditions affect day-to-day life and well-being.
Denizli, DenizliAges 18 years+ - NCT07273721RecruitingPhase 2
Testing BT200 in type 2B von Willebrand disease
This trial tests a new medicine called BT200 (rondaptivon pegol) to see if it can safely help people with type 2B von Willebrand disease who have low platelets and recent bleeding problems.
Vienna, State of ViennaAges 18 years+ - NCT07275021Recruiting
Brain Injury & Vision Screening in Newborns
This study looks for early signs of vision problems in babies who had brain injuries around the time of birth. It aims to help doctors better identify and predict these issues.
Boston, MassachusettsAges 7 months–10 months - NCT07272200Recruiting
Genes and alcohol in liver cancer: a study
This study looks at how your genes and alcohol use together affect the risk of liver cancer. It may help find ways to prevent cancer in people with fatty liver disease or moderate alcohol intake.
Milan, MilanoAges 45–75 - NCT07275905RecruitingPhase 1
Phage therapy for chronic achromobacter lung infection in cystic fibrosis
This study tests whether giving you a mixture of viruses (called phages) that specifically target the bacteria Achromobacter can help treat your chronic lung infection. You would breathe in the phages, and the study will check if this is safe and helps improve your breathing.
Pittsburgh, PennsylvaniaAges 18 years+ - NCT07270549RecruitingPhase 1/Phase 2
Gene therapy trial for children with CTNNB1 syndrome
This trial tests a one-time gene replacement therapy given into the fluid around the brain to help children with CTNNB1 neurodevelopmental syndrome. The goal is to see if replacing the faulty gene can improve development and reduce symptoms.
LjubljanaAges 2–12 - NCT07274254RecruitingPhase 3
Lidocaine for sickle cell pain crisis in intensive care
This trial tests whether a numbing medicine (lidocaine) given through a vein can help reduce the amount of strong painkillers (morphine or oxycodone) needed for a sickle cell pain crisis or acute chest syndrome. It aims to ease pain and possibly lower side effects from opioids.
BordeauxAges 18 years+ - NCT07277361Recruiting
Quality of life study for Fabry disease patients aged 65+
This study looks at the quality of life of people aged 65 and older with Fabry disease. It includes patients who are receiving specific treatment and those who are not, to compare their experiences.
Paris, FranceAges 65 years+ - NCT05575882Recruiting
Skin cream trial to prevent relapses in very dry eczema skin
This trial tests whether a cosmetic cream can reduce eczema flare-ups and is comfortable/safe to use on very dry, irritated, eczema-prone skin. It’s mainly for children who have had recent flare-ups and moderate eczema severity.
Ciudad Autónoma de Buenos Aire, Ciudad Autónoma de Buenos AireAges 6 months–15 years - NCT06535542Recruiting
Gene testing and digital twins for high cholesterol in Emiratis
This study uses whole genome sequencing and digital twin technology to better understand and manage very high cholesterol in Emirati adults. It aims to identify genetic causes and personalize treatment.
Abu Dhabi, Abu Dhabi EmirateAges 18–55 - NCT06641895RecruitingEarly Phase 1
Testing BBM-D101 gene therapy for Duchenne muscular dystrophy
This early-phase study tests a new gene therapy called BBM-D101 for boys with Duchenne muscular dystrophy (DMD). The goal is to see if it is safe and helps improve muscle function in young boys.
Shanghai, Shanghai MunicipalityAges 4–8 - NCT06893614Recruiting
Facial mesh study for jaw surgery patients
This trial uses computer scans to create facial shape meshes for patients who had jaw surgery to correct an underbite. It aims to improve planning for future surgeries.
Cairo, AbbassiaAges 18–50 - NCT06893926Recruiting
Cord blood S100B protein in growth-restricted newborns
This study measures a protein called S100B in umbilical cord blood to learn more about brain development in newborns with fetal growth restriction (FGR), a condition where a baby is smaller than expected. Understanding this protein could help doctors identify babies who may need extra support after birth.
WarsawAges 18 years+ - NCT06894290Recruiting
International heart disease registry for amyloidosis
This study collects information from people with a specific type of heart disease called cardiac amyloidosis (AL or ATTR type). By joining a registry, you help doctors learn more about these conditions and how to better treat them.
BrugesAges 18 years+ - NCT06892964Recruiting
Italian registry and biobank for ML patients
This study creates a national registry and biobank to collect medical information and biological samples from people with any type of ML, helping research into the condition.
RomaAges Up to 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.