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
- NCT06015191Recruiting
Remote heart rehab for teens with congenital heart disease
This trial tests a home-based cardiac rehab program for adolescents with certain types of congenital heart disease. It aims to help you exercise safely and improve your fitness using online coaching and monitoring.
Kansas City, MissouriAges 12–19 - NCT06030310Recruiting
Motor program effects on brain development in children
This trial tests if a special exercise program can help with brain development in kids ages 7 to 9. It may support how their nerves and muscles work together.
Manresa, BarcelonaAges 7–9 - NCT06019637Recruiting
Long-term safety study of Zolgensma for spinal muscular atrophy
This study follows the long-term safety of Zolgensma gene therapy in Brazilian children with spinal muscular atrophy (SMA). It helps doctors understand how safe the treatment is over time.
Curitiba, ParanáAges birth–100 years - NCT05990179Recruiting
Screening newborns for rare diseases using genetics
This trial offers free genetic screening for rare diseases in newborns. It aims to find health conditions early so babies can get the right care sooner.
New York, New YorkAges 1 day–1 month - NCT06073626Recruiting
Genetic testing study for Black cancer survivors
This study offers free genetic testing to Black or African American people who have had certain cancers. It aims to find inherited gene changes that increase cancer risk and improve health equity.
Washington D.C., District of ColumbiaAges 18–80 - NCT05662111RecruitingPhase 2
Etidronate treatment for brain calcifications in Fahr disease
This Phase 2 study tests whether etidronate (a medicine that affects bone-calcium handling) can help people with Fahr disease or a similar condition marked by calcium deposits in the brain. It will also check safety and whether certain tests can track changes over time.
Utrecht, UtrechtAges 18 years+ - NCT05661318Recruiting
Study of heart health in Ballana adults
This study is looking at heart health in adults living in Ballana. Your involvement could help researchers understand local heart risks and needs in the community.
AswānAges 18 years+ - NCT05740111Enrolling by invitation
Watching early for pancreatic cancer in people at high risk
This study tests a personalized “watch and check” plan to help find pancreatic cancer as early as possible in people with a strong family history or certain inherited gene changes. It may help doctors tailor how often you’re monitored based on your risk.
OsloAges 30–80 - NCT05735964Recruiting
Using dye to guide repair surgery for baby’s esophagus
This trial studies whether a special IV dye (indocyanine green, or ICG) can help surgeons during an operation to fix a baby’s esophagus blockage with an abnormal connection to the windpipe. It may help improve how the repair is done, but eligibility depends on baby’s safety factors for using the dye.
BirminghamAges Up to 1 year - NCT05489393Recruiting
Global registry for people with DRPLA
This study is a global patient registry that collects information from people with DRPLA to better understand the condition over time. It may help researchers learn what to expect and how to support future treatments, and participation mainly involves giving consent and sharing your history.
New York, New YorkAges birth–100 years - NCT05329935Recruiting
Registry for children with congenital thymus missing
This registry follows children born with congenital athymia (a missing or non-working thymus). It collects information around treatment with RETHYMIC, which may help researchers better understand how care and outcomes look over time.
Durham, North CarolinaAges birth–21 years - NCT05374616Recruiting
Study of TANGO2-related conditions and tissue samples
This study follows people with a TANGO2 gene change and collects medical information and samples over time. It aims to better describe the condition and build a biorepository (a secure collection of samples) to support future research.
Houston, TexasAges birth+ - NCT05402839Recruiting
Screening people who may be prone to malignant hyperthermia
This study looks at people who had a dangerous anesthesia reaction called malignant hyperthermia during or after surgery. It may help teams figure out who might be at risk in the future so they can take safer steps next time.
Beijing, Beijing MunicipalityAges birth–100 years - NCT04987073Recruiting
Vitamin D type added for CYP24A1 vitamin D deficiency
This study tests a vitamin D-like medicine for people with a specific genetic cause of low active vitamin D (CYP24A1 deficiency). If you have the right gene change, it may help your body use vitamin D more normally.
Caen, NormandyAges 18 years+ - NCT05152823Enrolling by invitationPhase 1/Phase 2
Gene therapy for IGHMBP2-related nerve conditions
This early-phase study tests a gene therapy meant to treat people who have IGHMBP2 gene changes. It aims to improve the way the nervous system works and to see if the treatment is safe, especially in young children.
Columbus, OhioAges 2 months–14 years - NCT05179863Recruiting
Swiss rare disease registry for patients and caregivers
This study builds a “registry,” which is a secure list of people with rare diseases or suspected rare diseases in Switzerland. It helps researchers better understand these conditions over time and improve care.
AarauAges Any age - NCT05159739Enrolling by invitation
Study of family genetic risk for joint implant infections
This study looks at whether certain families have a higher genetic risk for infections around joint implants. It may help researchers understand who is more at risk and how to prevent these infections.
Salt Lake City, UtahAges 18–100 - NCT05133245Enrolling by invitation
Study of genes in people with PHACE syndrome
This study looks at genetic (DNA) differences in people who have PHACE syndrome. It also includes an eye exam, and results may help doctors better understand the condition.
Nashville, TennesseeAges Any age - NCT05058781Recruiting
Study of early hormone changes in newborns at risk
This trial looks at “minipuberty,” a normal early hormone window in newborns, in babies who may have hormone-signaling problems. It may help doctors understand what to watch for and how early care could be planned.
Lausanne, Canton of VaudAges Up to 9 months - NCT04808505RecruitingPhase 3
Study of enzyme therapy for children with infant-onset Pompe disease
This trial tests how well a new enzyme treatment (cipaglucosidase alfa with miglustat) works and how safe it is in children and babies with infant-onset Pompe disease. It may help by improving muscle function after earlier treatment or, for some babies, starting treatment when no prior enzyme therapy has been given.
Gainesville, FloridaAges Up to 17 years - NCT04965558Recruiting
Study of outcomes in genetic Wilson disease patients
This study looks at the health features and long-term outcomes in people with Wilson disease who have a genetic diagnosis. It may help doctors understand what to expect over time for different patients.
Hangzhou, ZhejiangAges 6–65 - NCT04706013RecruitingPhase 3
Oral vitamin B6 treatment for PNPO deficiency
This Phase 3 study tests an oral form of vitamin B6 (P5P) to treat PNPO deficiency, a rare genetic condition that can cause seizures. It’s meant for people whose seizures are usually controlled on this treatment, to confirm the best approach going forward.
Birmingham, AlabamaAges Any age - NCT05078723Recruiting
Study links limonene to CYP2C19 gene differences
This study looks at how a person’s CYP2C19 gene type affects how their body processes limonene (a citrus compound). The results may help researchers understand differences in drug and nutrient processing based on genetics.
Stanford, CaliforniaAges 18–45 - NCT04824040Enrolling by invitation
Study of immune, muscle, and genetic features in LGMD 2B
This study looks at immune function, muscle appearance, and genetic information in people with limb-girdle muscular dystrophy type 2B. It may help researchers understand the condition better, which can support future treatments.
MoscowAges 18–85
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.