Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,863 recruiting studies in this area right now.
By phase
- Not applicable2,776
- Phase 2282
- Phase 1237
- Phase 3216
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis129
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease39
- Hemophilia A39
- 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 Human Genome Research Institute (NHGRI)23
Where studies are running
- California339
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona77
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,863 total
- NCT07416526RecruitingPhase 3
Testing NXT007 for hemophilia A without inhibitors
This study tests a new medicine called NXT007 for people with hemophilia A. It compares NXT007 to standard factor VIII treatment to see if it works better at preventing bleeding episodes.
Aurora, ColoradoAges 12 years+ - NCT07049042Recruiting
Hormone study in genetic brain development conditions
This study looks at whether certain genetic brain development conditions affect hormone production in the body. It may help find out if people with these conditions have low sex hormones.
Sheffield, SelectAges birth–99 years - NCT07008612Recruiting
Study of MYT1L syndrome in children and adults
This study looks at MYT1L syndrome, a rare genetic condition that affects brain development. It aims to understand the disorder better by studying people with the syndrome and a comparison group.
RouenAges 6 years+ - NCT07073014Enrolling by invitationPhase 3
Long-term continuation of a follow-up study for a children's genetic condition called something in the world of a person who is like a head or foot specialist? Probably? (shortest version? of? a? person? condition? that? is? so? far? less? than? 60?? (time? of? a? person? limited???)?
this study is a long-term extension of the main study for the drug which from Bio? bi? whatever? in the name? by?...????
Wilmington, DelawareAges Any age - NCT06983132Recruiting
Natural history of familial cavernous malformations: CCM study
This study follows people with a hereditary form of cavernous malformations (clusters of abnormal blood vessels in the brain). It aims to understand how the condition changes over time, without testing any new treatments.
BariAges Any age - NCT06907186Recruiting
Psychological support program for amyloidosis patients and families
This study tests a structured psychological support program for people with hereditary transthyretin amyloidosis (ATTRv) with heart involvement, their caregivers, and those who carry the gene but have no symptoms yet. The goal is to see if the program is practical and well-accepted.
PaviaAges 18 years+ - NCT06851052Enrolling by invitation
How do DNA changes happen in health and disease?
This study is looking at DNA changes (mutations) in healthy people and in people who may have DNA damage from things like the sun, smoking, past diseases, or treatments like radiation. The goal is to better understand how these changes happen and what they mean.
CambridgeAges 18 years+ - NCT06832644Recruiting
Heart risk prediction study for healthy adults in Italy
This study tests a new way to predict your future risk of heart disease. It is for healthy adults aged 40-80 who have never had heart problems or diabetes. You will use your email and internet to take part.
Milan, MilanAges 40–80 - NCT06845501Recruiting
Purine supplements for AICA-ribosiduria
This trial tests whether adding purines (natural substances found in foods) to your diet can help treat AICA-ribosiduria, a rare genetic condition. It may be a safe and simple therapy option for you.
Saint-EtienneAges 3 years+ - NCT06769191RecruitingEarly Phase 1
CD7 car-t, stem cell transplant, and kidney transplant for SIOD
This trial tests a sequence of treatments for SIOD (a genetic condition causing immune and kidney problems). First, you receive CD7 car-t cells, then a stem cell transplant from a family donor, followed by a kidney transplant from the same donor. The goal is to see if this approach is safe and can help your body accept the new kidney.
Hangzhou, ZhejiangAges Any age - NCT06734949Enrolling by invitation
Computational models for neuromuscular disease
This study uses advanced computer models to better understand inherited neuromuscular diseases. It may help doctors find new ways to group patients and personalize care.
MunichAges Any age - NCT06729554Recruiting
Education and support program for rare disease kids
This study tests a targeted educational and support program for children and teens with rare diseases. It helps families learn more about the condition and cope better with day-to-day challenges.
Graz, AustriaAges 5–20 - NCT06796751Recruiting
Better DNA testing for unclear genetic results
This study uses a new, advanced DNA sequencing method (long-read sequencing) to try to clarify unclear or incomplete genetic test results. If you or a family member have had genetic testing that left unanswered questions, this trial may help find more definite answers.
Bologna, BolognaAges 4 weeks+ - NCT06776380Recruiting
Puberty development in people with RASopathies
This study looks at how puberty develops in people with RASopathies. It aims to understand the process better by studying those who have already completed puberty.
Bologna, BolognaAges 8–35 - NCT06678685RecruitingPhase 2/Phase 3
Spironolactone for children with NCOR gene changes and autism
This trial tests if spironolactone can help children with autism who have a certain genetic change (in the NCOR gene). The study will monitor improvement and safety over time.
Jinan, ShandongAges 3–10 - NCT06623032Recruiting
Medium-chain fatty acids in MCADD patients and healthy volunteers
This trial tests how medium-chain fatty acids (a type of fat found in coconut oil) affect metabolism in people with MCADD, a genetic condition that affects fat breakdown, compared to healthy people. The results may help guide dietary advice for those with MCADD.
CopenhagenAges 18–80 - NCT06693284RecruitingEarly Phase 1
Testing mirdametinib and vorinostat for NF1-related MPNST
This trial tests two targeted drugs, mirdametinib and vorinostat, to see if they can shrink MPNST tumors in people with NF1 before surgery. It is for patients whose tumors lack a specific protein marker (H3K27me3).
Minneapolis, MinnesotaAges 12 years+ - NCT06554275Recruiting
CCHS research health hub
This study creates a secure health information hub for people with Congenital Central Hypoventilation Syndrome (CCHS) to help researchers better understand the condition and find new ways to treat it. Being part of this hub may help advance future studies and care options for CCHS.
Chicago, IllinoisAges Any age - NCT06523179Recruiting
Liver cancer risk study for people with fatty liver disease
This study looks at your risk of developing liver cancer (hepatocellular carcinoma) if you have a liver condition such as NAFLD or a related disease. It aims to improve how doctors predict who might be at higher risk, so they can offer better monitoring and care.
Milan, MilanoAges 45–75 - NCT06224660RecruitingPhase 1
Gene therapy for heart problems in Duchenne muscular dystrophy
This trial tests an experimental therapy for heart weakness caused by Duchenne muscular dystrophy. It aims to improve how heart cells handle calcium to protect heart function.
Kansas City, KansasAges 18 years+ - NCT06244433Recruiting
Genetic testing for sudden infant death
This study looks for gene changes that might be linked to sudden unexpected infant death. It compares the DNA of babies who died suddenly with DNA from their parents, to find possible inherited causes.
Nantes, Loire-AtlantiqueAges Any age - NCT06212947Recruiting
An observational study for children with hypochondroplasia
This study observes children with hypochondroplasia to learn more about the condition. It does not involve any treatment—just monitoring and data collection to help future research.
Phoenix, ArizonaAges Up to 15 years - NCT06078852Recruiting
FSHD Diaphragm Ultrasound Study
This study uses ultrasound to look at the diaphragm in people with FSHD. It aims to better understand how FSHD affects breathing muscles over time.
RomaAges 18 years+ - NCT06020625Recruiting
Genetic testing for advanced cancers
This trial investigates genetic testing (mutational profiling) in people with various advanced cancers. It aims to understand how these tests can guide more personalized treatment decisions.
RomeAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,863 recruiting medical genetics studies from the U.S. registry right now, out of 5,730 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.