Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,859 recruiting studies in this area right now.
By phase
- Not applicable2,773
- Phase 2283
- Phase 1236
- Phase 3215
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis128
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- 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
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,859 total
- NCT04076449Recruiting
MRI measurements for epilepsy from a single brain blood vessel lump
This study uses special MRI scans to measure brain changes in people whose seizures are related to one cerebral cavernous malformation (a type of abnormal blood vessel in the brain). It aims to find a measurable “biomarker” from MRI that may help understand the epilepsy and the brain structure around it.
Beijing, Beijing MunicipalityAges 18–70 - NCT04084132Recruiting
Testing earlier vs later valve replacement after repaired Tetralogy
This study compares doing a valve replacement earlier versus later in people born with Tetralogy of Fallot who already had heart surgery as babies. It may help decide the safest timing to protect heart function, especially right-sided pumping and valve leakage.
AarhusAges 12 years+ - NCT04093986Recruiting
Using past pregnancy records from women with sickle cell
This study looks back at past pregnancy and breastfeeding experiences in women with sickle cell disease who took hydroxyurea. It aims to better understand how hydroxyurea exposure may affect pregnancy and baby outcomes.
Cincinnati, OhioAges Any age - NCT04095195Recruiting
Pancreatic cancer risk registry for high-risk families
This study builds a registry of people with a higher-than-average risk of pancreatic cancer, based on family history or inherited gene conditions. If you join the extra imaging follow-up, it helps your care team monitor risk earlier.
Rozzano, MilanAges 18–80 - NCT04099966RecruitingPhase 2
Stem cell transplant to treat high-risk blood cancers
This trial tests a specialized donor stem cell transplant to treat high-risk problems in the blood and bone marrow, including some cancers and non-cancers. It may help by using donor immune cells designed to better control the disease after transplant.
Valhalla, New YorkAges 1 day–30 years - NCT04101968Recruiting
Study of GBA changes in Parkinson’s using multiple tests
This study looks at people with Parkinson’s who carry a specific genetic change in the GBA gene. It uses several tests (including brain scans) to understand the disease better and may help guide future treatments.
Portland, OregonAges 18–80 - NCT04106479Recruiting
Baby heart ultrasound study in newborn congenital heart defects
This study records newborn heart measurements (using medical imaging) to compare babies with certain congenital heart defects to healthy-term babies. The goal is to see how well one test matches another, which may help doctors better understand heart conditions in newborns.
Montreal, QuebecAges birth–1 week - NCT04109820Recruiting
Testing MitoQ for blood clotting activity in sickle cell
This trial studies whether MitoQ changes how your platelets (blood cells that help clot) work and how much “reactive oxygen” your body makes. It includes adults with sickle cell anemia and African American healthy volunteers to compare results.
Pittsburgh, PennsylvaniaAges 18 years+ - NCT04110730Recruiting
Testing 3D-printed prostheses on hand and arm brain signals
This study looks at how 3D-printed prosthetic devices affect brain and nerve activity related to moving and using the upper limb. You might be able to join if you are a child or teen who is missing part of a hand/arm and has upper-limb movement difficulties.
Omaha, NebraskaAges 3–18 - NCT04111692Recruiting
Watching foam treatment for cysts in autosomal polycystic disease
This study follows adults with inherited kidney and/or liver cysts that are causing symptoms to see how a foam sclerotherapy procedure may help and what outcomes happen over about a year. You may be eligible if you have a few sizable, specific-type cysts and can safely attend follow-up visits.
Rochester, MinnesotaAges 18–100 - NCT04114578Recruiting
Study of babies and children with diaphragm hernia
This is an observational study that follows babies and children with congenital diaphragm hernia (CDH) to learn more about their health and care over time. It may help doctors better understand which factors affect outcomes.
Montreal, QuebecAges Up to 17 years - NCT04117685Recruiting
Global hip dysplasia registry for young children
This trial is a worldwide registry that collects information from children with hip dysplasia or who are at higher risk. It helps researchers understand who is affected and how hip evaluations are done, which can improve future care.
Vancouver, British ColumbiaAges 1 minute–10 years - NCT04115774Recruiting
Registry for people with osteogenesis imperfecta
This study is a registry, meaning it collects health information about people with osteogenesis imperfecta (OI) to better understand the condition. It may help researchers learn what care works best and how OI varies from person to person.
Bologna, Emilia-RomagnaAges Any age - NCT04117360Recruiting
Speech therapy study for people after jaw alignment surgery
This study looks at how well people can make specific speech sounds before and after jaw alignment treatment. It may help researchers understand whether speech patterns improve with treatment in people with certain bite differences.
Chapel Hill, North CarolinaAges 15–40 - NCT04119908Recruiting
Test video microscopy to predict bleeding risk
This study uses special video imaging to try to predict when bleeding may happen in certain inherited bleeding disorders. It may help doctors better anticipate bleeding and guide safer care.
Lille, NordAges 18 years+ - NCT04129021Recruiting
Eye imaging test with fast detailed scans
This trial studies whether a new, very high-resolution and high-speed eye scan can be used for people with eye problems or for healthy volunteers. It may help doctors better “see” eye structures more clearly to guide care.
ParisAges 18 years+ - NCT04133272Recruiting
Registry for Ehlers-Danlos syndrome patients and pregnancies
This study is a registry that collects information about people with Ehlers-Danlos syndrome, including unborn babies diagnosed before birth. It may help researchers learn more about the condition and improve care over time.
Bologna, Emilia-RomagnaAges Any age - NCT04131036Recruiting
Compare emicizumab and factor VIII for joint and bone health
This study compares two preventive treatments for severe hemophilia A—emicizumab versus factor VIII—to see how they affect joint and bone health. It may help you and others understand which option better protects joints and bones over the next several years.
Los Angeles, CaliforniaAges 16 years+ - NCT04133285Recruiting
Registry for people with multiple bone growths
This study is a registry that collects information about people with multiple osteochondromas (extra bone/cartilage growths). It may help researchers better understand the condition and improve future care, even if no treatment is given.
Bologna, Emilia-RomagnaAges Any age - NCT04137133Recruiting
Precision medicine study for young children with cystic fibrosis
This study enrolls newly diagnosed infants with cystic fibrosis to follow them during “precision medicine” care. It may help doctors better understand which treatments and monitoring work best, especially before certain infections develop.
RoscoffAges Up to 18 years - NCT04146376Recruiting
Study of medicines for Von Willebrand disease during pregnancy
This study looks at how well a Von Willebrand disease treatment plan works during pregnancy, and whether some patients need extra “adjusting” of medicine. It may help prevent bleeding problems by matching treatment to each person’s lab results later in pregnancy.
Aurora, ColoradoAges 18 years+ - NCT04151342Recruiting
Study of Canadian adults with cancer rare DNA changes
This real-world study follows adults in Canada who have cancer that was tested and found to have rare molecular (DNA/protein) changes. It helps researchers understand how these rare findings show up and how care happens in everyday practice.
Calgary, AlbertaAges 18 years+ - NCT04152551RecruitingPhase 4
Bisphosphonate use and hearing loss in type 1 osteogenesis imperfecta
This study looks at whether bisphosphonate treatment affects hearing loss in people with type 1 osteogenesis imperfecta. If you qualify, it may help researchers understand if treatment can protect hearing over time.
New York, New YorkAges 6–100 - NCT04157361Recruiting
Non-invasive lung testing in asthma and cystic fibrosis
This trial studies how well a non-invasive lung test can show lung involvement in people with asthma (especially IgE-related asthma) and people with cystic fibrosis. You might benefit by getting extra lung assessments without invasive procedures.
OlomoucAges Any age
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,859 recruiting medical genetics studies from the U.S. registry right now, out of 5,745 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.