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
- NCT07708714RecruitingPhase 1/Phase 2
Hydroxyurea study for teens with sickle cell anemia
This study tests how well a higher dose of hydroxyurea works for teenagers with sickle cell anemia living in areas where malaria is common. It looks at safety and how the treatment affects their daily lives.
KampalaAges 11–18 - NCT06016634RecruitingPhase 2
Alendronate for bone damage in adults with sickle cell disease
This trial tests if the drug alendronate can help heal bone damage caused by sickle cell disease. It may be an option if you have this bone problem and are between 18 and 80 years old.
Sacramento, CaliforniaAges 18–80 - NCT06679270RecruitingPhase 3
Long-term safety study of metreleptin for partial lipodystrophy
This study tests the long-term safety of metreleptin for people with partial lipodystrophy. It is for those who already completed a related study and want to continue treatment.
Birmingham, AlabamaAges 13 years+ - NCT07283770RecruitingPhase 1
Safety study of VX-581 in healthy people
This trial tests the safety of a new medicine called VX-581. It is given to healthy volunteers to see how the body processes the drug and if it causes any side effects.
Overland Park, KansasAges 18–55 - NCT02544022Recruiting
Testing and validating pain and symptom questionnaires for NF1
This study checks whether patient surveys (questionnaires) can reliably measure symptoms and pain in people with NF1 who have plexiform neurofibromas. It helps create better tools for tracking how you feel and how treatments may affect quality of life.
Washington D.C., District of ColumbiaAges 5 years+ - NCT06873035Enrolling by invitationPhase 2/Phase 3
Infigratinib for children with hypochondroplasia
This study tests an oral medication called infigratinib in children with hypochondroplasia, a form of short stature. It aims to see if the drug can help improve growth and is for children who are still growing.
Oakland, CaliforniaAges 3–18 - NCT02325674Recruiting
Metreleptin safety and effectiveness registry
This registry follows people who are already taking metreleptin (a medicine for certain rare conditions) to better understand its long-term safety and how well it works in everyday use. It may help you and other patients by building real-world evidence about this treatment.
Birmingham, AlabamaAges Any age - NCT03837574Recruiting
Registry for people with Tetralogy of Fallot and a defibrillator
This is a national registry that collects information about people with Tetralogy of Fallot who have an implantable defibrillator. It helps researchers better understand outcomes and care needs in this specific group.
ParisAges 18 years+ - NCT03779854RecruitingPhase 2
Preventing graft-versus-host disease in kids after stem cell transplant
This trial tests whether removing certain immune cells (T cells) from the donor transplant can lower the risk of chronic graft-versus-host disease (long-term immune attack after transplant) in children and young adults with blood cancers. If you qualify, it may help improve transplant outcomes while tracking safety and side effects.
Los Angeles, CaliforniaAges 6 months–26 years - NCT04782258RecruitingPhase 3
Testing the safety of tolvaptan in children with ARPKD
This trial is for children from 28 days old up to 18 years who have a rare kidney disease called ARPKD. It will test if the drug tolvaptan is safe for them. The study helps find new treatment options for kids with this condition.
Washington D.C., District of ColumbiaAges 4 weeks–18 years - NCT05377372Recruiting
Study of early exposures in babies with sickle cell disease
This study asks mothers of babies with sickle cell disease about early-life exposures and related factors. It may help researchers understand what might affect health in the first months of life.
Birmingham, AlabamaAges 18–50 - NCT07543731Recruiting
Study of how patients stick with cholesterol-lowering injection medications
This study follows people who are starting one of three injectable cholesterol medications (inclisiran, evolocumab, or alirocumab) to see how well they stick with treatment over time. Understanding medication adherence helps doctors and patients find ways to improve long-term health outcomes.
BaselAges 18–99 - NCT07275905RecruitingPhase 1
Phage therapy for adults with cystic fibrosis and achromobacter infection
This trial tests a cocktail of viruses (bacteriophages) that target achromobacter bacteria in the lungs of adults with cystic fibrosis. It aims to see if the phages are safe and can reduce the infection.
San Diego, CaliforniaAges 18 years+ - NCT05189925RecruitingPhase 1
Correcting a missing immune enzyme using an mRNA cell therapy
This early-phase trial tests whether an mRNA-based treatment can correct a key immune problem in people with chronic granulomatous disease (CGD). It may help your immune cells work better against infections, but this is mainly to check safety and early signs of benefit.
Bethesda, MarylandAges 18–75 - NCT07233408Recruiting
Online tool to help adults with neurofibromatosis 1 and low health literacy
This study tests an online platform designed to help adults with neurofibromatosis 1 (NF1) who have low health literacy. The goal is to make it easier to get evidence-based care. You may be a good fit if you have an upcoming checkup with your primary care doctor.
Boston, MassachusettsAges 18 years+ - NCT00346814RecruitingPhase 2/Phase 3
Bevacizumab injections for severe eye vessel disease in premature babies
This trial studies whether an anti–blood vessel medicine (bevacizumab, given by eye injection) can improve the structure of the retina in very premature babies with advanced retinopathy of prematurity. It may help when standard treatments like laser or freezing cannot be used.
Mexico City, Mexico DFAges 1 month–1 year - NCT02965326Recruiting
Testing blood and swab markers to track new cystic fibrosis treatments
This study looks for simple signals (markers) that may show whether cystic fibrosis treatments are working. It includes people who take CF “modulator” medicines like ivacaftor, people who don’t, and people whose cystic fibrosis was ruled out after testing.
ParisAges Any age - NCT02958462Recruiting
Clinic study for early blood or bone marrow warning signs
This study follows people who may have early, unclear blood count problems or certain genetic/immune patterns that can later lead to bone marrow failure or blood cancers. It may help doctors better understand risks over time and guide earlier care.
Scottsdale, ArizonaAges 18 years+ - 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 - NCT02979119Recruiting
Haemophilia patient registry for children across Europe
This trial is a patient registry that collects medical information from children with hemophilia A or B. It may help care teams better understand bleeding patterns and treatments over time across participating hospitals.
GrazAges Any age - NCT02993796Recruiting
Krabbe disease patient and family registry
This registry collects information from people who have Krabbe disease, people at risk, and close family members. It helps researchers learn more about the disease and support future studies.
Buffalo, New YorkAges Any age - NCT03001180Recruiting
Study blood and tissue markers in vascular anomalies
This study collects extra blood (and sometimes tissue during procedures) to look for markers that can help doctors better understand vascular anomalies. It may not be a treatment, but it can improve future care by finding patterns linked to the condition.
Boston, MassachusettsAges 1 day+ - NCT03048266Recruiting
Testing genes and blood chemistry in MEN1 pancreatic tumors
This study looks at blood chemistry (metabolomics) and genetic information in people who have MEN1, especially if they are being evaluated for pancreatic neuroendocrine tumors. It may help doctors better diagnose these tumors by finding patterns in test results.
Houston, TexasAges Any age - NCT03047369Recruiting
Myelin brain disorder research biobank for samples and data
This study collects brain-related medical information and biological samples to help researchers better understand leukodystrophies and other white-matter brain disorders. It may help future diagnosis and treatments by building a valuable “biobank” of patient data and samples.
Los Angeles, CaliforniaAges 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.