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
- NCT06199427RecruitingPhase 2
Preventing graft-versus-host disease after stem cell transplant for immune disorders
This trial tests a combination of two drugs, ruxolitinib and PTCy, to prevent graft-versus-host disease (a common complication) in children receiving a stem cell transplant for inborn errors of immunity. The goal is to make the transplant safer and more effective.
MoscowAges birth–21 years - NCT06225882Recruiting
Follow-up study for patients with primary hyperoxaluria type 1 on Lumasiran
This study follows patients with primary hyperoxaluria type 1 who are being treated with Lumasiran. It aims to understand how well the treatment works over time.
BesançonAges birth–99 years - NCT06211348Recruiting
Genomic sequencing for healthy-looking fetuses
This study looks at the benefits of doing extra genetic testing (genomic sequencing) on samples from routine prenatal tests like CVS or amniocentesis, specifically for pregnancies where the baby appears normal on ultrasound.
San Francisco, CaliforniaAges 18–64 - NCT07288580RecruitingPhase 1/Phase 2
Gene therapy for children with inherited deafness
This trial tests an injection called EHT102 for children who have severe or profound hearing loss due to mutations in the Otoferlin gene. The goal is to see if the treatment can restore or improve hearing.
Shanghai, Shanghai MunicipalityAges 1–17 - NCT06132750Recruiting
Long-term study of LAMA2 and SELENON muscle conditions
This study follows people with LAMA2-related muscular dystrophy or SELENON-related myopathy over 5 years to understand how the condition changes over time. It may help you by tracking your disease progression and contributing to future research.
Nijmegen, GelderlandAges 1 day–100 years - NCT07293546Enrolling by invitationPhase 1/Phase 2
Gene therapy trial for FOXG1 syndrome
This trial tests a gene therapy called FRF-001 for people with FOXG1 syndrome. It aims to see if the treatment is safe and can help improve symptoms.
Houston, TexasAges 2–20 - NCT06105736Recruiting
Online behavior program for children with tuberous sclerosis
This study tests a program called 'Regulating Together' for children with tuberous sclerosis complex who have behavior challenges. The program is done online with your child and you, and may help improve self-control and reduce outbursts.
Carrboro, North CarolinaAges 8–17 - NCT07531511Recruiting
Understanding SLC6A1 Genetic Disorder in Children
This study tracks how children with SLC6A1 genetic mutations develop over time. Researchers will collect information about seizures, development, and daily functioning to better understand the condition and help guide future treatments.
New York, New YorkAges Up to 17 years - NCT06569316Recruiting
Genetic testing for cancer prevention in American Indian communities
This trial offers genetic testing to American Indian adults who have or have had cancer, to help prevent future cancers. It aims to make testing more accessible to these communities.
Scottsdale, ArizonaAges 18 years+ - NCT06523543Recruiting
Early fetal genetic test using placental cells
This study tests a new method to detect genetic information from a pregnancy as early as 7 weeks, using cells from the placenta. It may help identify certain genetic conditions earlier than standard tests.
Montpellier, FranceAges 18 years+ - NCT06104748Recruiting
Study on growth problems in the womb linked to blood flow issues
This study follows women whose babies have a growth problem in the womb (FGR) linked to how blood flows to the placenta. It looks at causes and outcomes to help improve care.
Shanghai, Shanghai MunicipalityAges 18–45 - NCT07039734Recruiting
Ovarian reserve in Fragile X premutation carriers
This study looks at egg supply (ovarian reserve) in women who carry the Fragile X premutation. It aims to understand fertility potential better and help guide future family planning.
Paris, FranceAges 18–40 - NCT07627217Recruiting
Understanding MNGIE disease progression and natural history
This study collects information from patients with MNGIE (a rare genetic condition affecting how cells break down certain molecules) to better understand how the disease develops and progresses over time. By learning more about your experience, researchers hope to develop better treatments.
CambridgeAges Any age - NCT07541209RecruitingPhase 1/Phase 2
Safety and Efficacy of PTH-IA for Rare Genetic Bone Disorder
This trial tests a new medication called PTH-IA for people with a specific genetic mutation affecting the parathyroid hormone receptor. The study aims to see if the medication is safe and can help improve bone health in children and adults with this rare condition.
Bethesda, MarylandAges 3–100 - NCT07494344Recruiting
Joint replacement surgery study for bleeding disorders
This study looks at how people with inherited bleeding disorders, like hemophilia, do after joint replacement surgery. Researchers want to learn what works best for managing bleeding during and after surgery to improve recovery.
Pavia, LombardyAges 18 years+ - NCT07413211Recruiting
Natural history study for genetic epilepsy and developmental delays
This study follows children and adults with genetic conditions that cause severe epilepsy and developmental delays (DEE), including those with MEF2C mutations. It aims to better understand these disorders and prepare for future clinical trials. You or your child can join in person (travel to NYC), virtually (online), or by filling out a registry.
New York, New YorkAges Any age - NCT07413029Recruiting
A study on people with PRSS1 gene changes
This study follows people who have a specific change (mutation) in the PRSS1 gene. The goal is to learn more about how this gene change affects health over time, which could help with future care.
Clichy-sous-BoisAges Any age - NCT07173153Enrolling by invitationPhase 1/Phase 2
Gene therapy study for SLC6A1 genetic disorder
This trial tests a gene therapy for people with a specific mutation (S295L) in the SLC6A1 gene, which causes a neurodevelopmental disorder. The therapy aims to correct the genetic issue, and participants will be monitored closely for safety and effectiveness.
Columbus, OhioAges Any age - NCT07125040Recruiting
Understanding LAMA2 muscle disease over time
This study follows people with LAMA2-related muscular dystrophy (a genetic muscle-weakening condition) to learn how it changes over time and find better ways to measure it. By participating, you help researchers identify new disease markers that could improve future treatments.
MilanAges Any age - NCT07135050RecruitingPhase 1/Phase 2
Gene therapy study for Pitt Hopkins syndrome
This trial tests a new gene therapy called MZ-1866 for people with Pitt Hopkins syndrome. The therapy is given as a single injection into the fluid around the brain to help replace the missing or faulty TCF4 gene.
Oakland, CaliforniaAges 2–25 - NCT07125066Enrolling by invitationPhase 1
Testing ACER-001 for combined D,L-2 hydroxyglutaric aciduria
This trial tests a drug called ACER-001 in a single patient with a rare metabolic disorder. The goal is to see if the drug helps manage symptoms.
Pittsburgh, PennsylvaniaAges Any age - NCT07156214Recruiting
Understanding RFC1-ataxia to find biomarkers
This study looks at a rare genetic condition called RFC1-ataxia (also known as CANVAS). It aims to find better ways to diagnose and track the disease. You may qualify if you have this condition, are between 18 and 80, and can agree to take part.
BolognaAges 18–80 - NCT00369421Recruiting
Diagnosis and care for inherited metabolic conditions
This trial helps evaluate people who may have an inherited (genetic) metabolic or related disorder, and sometimes includes treatment or guidance based on the diagnosis. It may involve blood and urine testing, and participation can include in-person visits or telehealth.
Bethesda, MarylandAges 1 month–115 years - NCT07615400Recruiting
Long-term study of people with fucosidosis
This study follows people with fucosidosis over time to learn more about how the condition progresses. It is an observational study, so participants do not receive any new treatment—just regular health monitoring to help researchers better understand the disease.
Orange, CaliforniaAges Any age
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.