Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,762 recruiting studies in this area right now.
By phase
- Not applicable2,682
- Phase 2280
- Phase 1239
- Phase 3209
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease133
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)37
- Duchenne Muscular Dystrophy36
- Fabry Disease36
- Hemophilia A36
- Cardiac Amyloidosis35
- Retinitis Pigmentosa33
- Huntington Disease31
- Lynch Syndrome31
- Heart Failure30
- Bronchopulmonary Dysplasia29
- Congenital Diaphragmatic Hernia29
- Duchenne Muscular Dystrophy (DMD)29
Leading sponsors
- Assistance Publique - Hôpitaux de Paris57
- Mayo Clinic39
- Boston Children's Hospital38
- National Institute of Allergy and Infectious Diseases (NIAID)38
- IRCCS Azienda Ospedaliero-Universitaria di Bologna32
- Children's Hospital Medical Center, Cincinnati31
- Hospices Civils de Lyon29
- Children's Hospital of Philadelphia23
- National Human Genome Research Institute (NHGRI)23
- St. Jude Children's Research Hospital23
Where studies are running
- California324
- Maryland160
- Alabama133
- Massachusetts107
- Arizona88
- New York84
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,762 total
- NCT05128149Recruiting
PKU care guidelines and how they affect daily well-being
This study looks at whether following specific care guidelines for phenylketonuria (PKU) leads to better metabolic control (blood phenylalanine levels) and better patient well-being. You may be asked to complete questionnaires and follow the study plan while receiving the usual PKU treatment your clinic recommends.
ZurichAges 10 years+ - NCT06912061Recruiting
New needle technique for Achilles tendon lengthening in kids
This study tests a new needle-based method to lengthen a tight Achilles tendon in children, which can help with toe walking or foot pain. The goal is to see if it works well and is safe.
DrammenAges 5–16 - NCT07203469Recruiting
Nature and activity groups for neurodivergent children
This trial explores whether group activities in nature can help neurodivergent children and youth feel better. It is part of a PhD project, with different phases for different groups.
Kristiansand, AgderAges 5–18 - NCT07204938Enrolling by invitationPhase 3
Long-term study of navenibart for hereditary angioedema
This study tests navenibart over a longer period to see if it continues to prevent swelling attacks in people with hereditary angioedema. It is for people who were already in a previous navenibart study.
Scottsdale, ArizonaAges 12 years+ - NCT07205666Recruiting
Eplontersen pregnancy and breastfeeding safety study
This study tracks the safety of eplontersen during pregnancy and breastfeeding by collecting reports from people who have taken it. It helps doctors understand any risks to the baby or mother.
FrankfurtAges Any age - NCT07209462RecruitingPhase 2
MRM-3379 for Fragile X Syndrome in males
This trial tests an investigational medicine called MRM-3379 in males with Fragile X syndrome. It looks at how the medicine affects thinking and behavior over time.
Phoenix, ArizonaAges 13–45 - NCT07209332Enrolling by invitationPhase 2
Long-term safety study of WVE-N531 for Duchenne muscular dystrophy
This trial is for people who have already taken WVE-N531 in an earlier study. It continues to check the medicine's safety and effects over a longer period.
AmmanAges Any age - NCT07210723RecruitingPhase 2/Phase 3
Study of danicamtiv for genetic and familial dilated cardiomyopathy
This trial tests if danicamtiv can improve heart function in people with dilated cardiomyopathy caused by certain genetic changes. It may help those who have stable symptoms but still need more treatment options.
Birmingham, AlabamaAges 18 years+ - NCT06926127Recruiting
Genomic study for rare and genetic diseases
This study aims to use advanced genetic testing to better understand rare and genetic diseases. It may help find a diagnosis or guide personalized care for you or your child.
Rome, LazioAges 1 minute–90 years - NCT05040178Recruiting
Study of Carbaglu® use for MMA and PA
This observational study looks at how Carbaglu® is used and how well it works for people with methylmalonic acidemia (MMA) or propionic acidemia (PA). It may help doctors understand real-world care for adults and children living with these conditions.
Washington D.C., District of ColumbiaAges Any age - NCT07210775RecruitingPhase 1/Phase 2
Imiquimod cream for mouth precancer
This trial tests a cream called imiquimod for people who have been diagnosed with oral dysplasia, a precancerous condition in the mouth. It is an option for those who cannot or choose not to have surgery or laser treatment.
Los Angeles, CaliforniaAges 18 years+ - NCT07206095Recruiting
Better diagnosis for inherited red blood cell diseases
This trial aims to improve how doctors diagnose rare inherited anemias, including sickle cell disease and other conditions that destroy red blood cells. It may help if you have a confirmed or suspected diagnosis but need more clarity through advanced testing.
Barcelona, BarcelonaAges Any age - NCT07204561Recruiting
CeraVe cream for keeping skin hydrated after atopic dermatitis treatment
This trial tests whether using CeraVe moisturizer can keep your skin hydrated and prevent flare-ups after your eczema has been cleared with a steroid treatment. It is for adults with mild to moderate eczema that gets better with steroids.
Roma, RMAges 18–99 - NCT07206888Enrolling by invitation
Study to try advanced ultrasound for breast imaging
This study explores a new way to process ultrasound images of the breast. It is for women who have a finding, cyst, mass, or calcifications seen on a mammogram or ultrasound, and it uses a special ultrasound technique that may provide clearer images without extra radiation.
Baltimore, MarylandAges 18 years+ - NCT07205523Recruiting
High-altitude blood study for stem cell transplant patients
This study observes how blood and stem cell transplants work for patients with blood diseases at high altitude. It aims to learn more to help future patients.
Xining, QinghaiAges Any age - NCT06862596RecruitingPhase 2/Phase 3
Mexiletine for spinal and bulbar muscular atrophy
This trial tests whether mexiletine hydrochloride can help men with spinal and bulbar muscular atrophy (SBMA) by improving muscle strength and function. It may be an option if you have mild to moderate symptoms and meet heart and medication safety checks.
Bunkyō CityAges 18–80 - NCT06927375RecruitingPhase 4
Combination drug therapy for thyroid eye disease
This study tests a combination of two drugs, tocilizumab and flupentixol-melitracen, in people with active, moderate-to-severe thyroid-associated eye disease (TED). It aims to see if this combination can reduce eye bulging, double vision, and anxiety symptoms.
Shanghai, Shanghai MunicipalityAges 18–80 - NCT06930274Recruiting
Ultrasound Study to Predict Stillbirth Risk
This study uses a special ultrasound to look for signs that might help predict stillbirth risk. If you join, you'll have an extra ultrasound and your pregnancy will be followed closely to see if this test can help keep babies safer.
Vancouver, British ColumbiaAges 19 years+ - NCT01694953Recruiting
Study of how MNGIE changes over time
This study follows people with MNGIE (a rare mitochondrial disease) to better understand what happens over time and how lab markers relate to health. It does not test a new drug as part of the study.
New York, New YorkAges 5 years+ - NCT06791343Recruiting
Early diagnosis of pregnancy and newborn health issues
This study looks at health data from pregnant women to find patterns that could help predict and catch health problems in mothers and babies early. It might offer better monitoring and care during and after pregnancy.
Guangzhou, GuangdongAges 18–45 - NCT04370899Recruiting
Early checkup for inherited high cholesterol in children
This study looks at children who may have inherited high cholesterol, especially when one parent is affected. It may help doctors detect the condition earlier and understand how it runs in families.
Reus, TarragonaAges 2–18 - NCT06936163Recruiting
Surgery for foot deformities in hereditary spastic paraplegia
This study looks at how well surgery works for foot problems like tight heel cords or clubfoot in people with hereditary spastic paraplegia (HSP), a condition that causes leg stiffness. It aims to see if surgery can improve walking, reduce pain, and prevent falls.
Shanghai, Shanghai MunicipalityAges 10–45 - NCT07193589RecruitingPhase 2
Testing ZL-82 tablets for moderate to severe eczema
This study tests if an oral tablet called ZL-82 can help people with moderate to severe atopic dermatitis (eczema) that hasn't responded well to other treatments. It aims to find a new option for controlling this chronic skin condition.
Chengdu, SichuanAges 18–75 - NCT07199127Recruiting
Studying duodenal polyps in FAP
This study reviews duodenal polyps in people with FAP to improve how they are classified. It uses existing medical records from endoscopies (scope tests) to help doctors better understand and manage polyp growth.
Milan, MIAges 18 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,762 recruiting medical genetics studies from the U.S. registry right now, out of 5,482 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.