Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,767 recruiting studies in this area right now.
By phase
- Not applicable2,684
- Phase 2280
- Phase 1241
- Phase 3210
- Phase 1/Phase 2208
- Phase 495
- Phase 2/Phase 349
Top conditions
- Sickle Cell Disease134
- Atopic Dermatitis124
- Congenital Heart Disease83
- Cystic Fibrosis77
- Down Syndrome51
- Genetic Disease42
- Cystic Fibrosis (CF)38
- 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
- Massachusetts108
- Arizona87
- New York85
- Texas70
- Minnesota68
- Pennsylvania64
- Florida59
Recruiting studies3,767 total
- NCT04888936Recruiting
Study families with genetic RAS syndromes, including adults and children
This study looks at people with certain inherited genetic conditions called RASopathies and their family members. It helps researchers understand these conditions and how genetic changes run in families, which may improve future care.
Bethesda, MarylandAges 1 month–99 years - NCT04864886Recruiting
Study how immune-related conditions affect metabolism
This study collects blood and other samples to see how the immune system changes “metabolism” (how your body uses energy) in people with immune-related conditions. Your samples may also be stored for future research and could help researchers better understand immune health.
Bethesda, MarylandAges 18–75 - NCT04924075RecruitingPhase 2
Belzutifan for cancers linked to VHL or HIF-2α changes
This Phase 2 study tests belzutifan (MK-6482) to treat certain advanced cancers caused by specific gene or disease changes, including VHL-related tumors and HIF-2α related tumors. It may help shrink tumors or slow their growth in people whose cancer matches these genetic or disease patterns.
Los Angeles, CaliforniaAges 12 years+ - NCT04883905Recruiting
Registry study for people with acute hepatic porphyria
This study is a registry (a list) of people diagnosed with acute hepatic porphyria. It helps researchers learn about the condition and track health information over time; it doesn’t test a new drug in the way treatment trials do.
Birmingham, AlabamaAges 12 years+ - NCT04918173RecruitingPhase 3
Atenativ for people with inherited low antithrombin during surgery or birth
This trial tests whether Atenativ (an antithrombin treatment) lowers dangerous blood clots during planned surgery or during late pregnancy/delivery. It’s for people with a rare inherited blood-clotting condition called congenital antithrombin deficiency.
Washington D.C., District of ColumbiaAges 12–80 - NCT04856059Recruiting
MRI study for early heart changes in Fabry disease
This study looks at early structural and tissue changes in the heart using a special type of MRI scan in adults with Fabry disease. It may help doctors understand changes earlier and better track heart involvement over time.
Toronto, OntarioAges 18 years+ - NCT04896281Recruiting
Phenylalanine-free diet study for ICU adults with high phenylalanine
This study tests whether a phenylalanine-free diet is helpful for ICU patients with high phenylalanine levels in the blood. It aims to see if changing diet in critically ill adults can improve outcomes during their ICU stay.
KeelungAges 20 years+ - NCT04903223RecruitingPhase 1
Testing how fat in the liver affects statin use in kids
This early study tests whether “liver fat” changes how a statin (rosuvastatin) works in children and teens. It may help doctors choose safer or more effective dosing in kids based on biology and a specific genetics marker.
Kansas City, MissouriAges 8–21 - NCT04872179Recruiting
Registry for people affected by alpha thalassemia
This is a research registry collecting information about people with alpha thalassemia to support ongoing studies. It may help the team better understand how fetal stem cell treatments are working and for whom they may be most suitable.
San Francisco, CaliforniaAges Any age - NCT04900493Recruiting
Rett syndrome global patient and family registry
This registry collects health and family information about people with Rett syndrome (or specific changes in the MECP2 gene). It helps researchers understand the condition better and plan future studies. Participation may include sharing information for living individuals or those who have passed away.
Trumbull, ConnecticutAges Any age - NCT04861064RecruitingPhase 2
Weekly sirolimus for blood and lymph vessel malformations
This trial studies whether taking sirolimus once a week can improve blood vessel, lymph vessel, or mixed (venolymphatic) malformations. It may help reduce symptoms and lesion size, while also monitoring safety in children and adults.
Charleston, South CarolinaAges 2 years+ - NCT04897321RecruitingPhase 1
CAR T therapy for children with B7-H3 solid tumors
This early-phase study tests a lab-made immune therapy (CAR T cells) made from your own cells to treat children’s solid tumors that have a specific marker called B7-H3. It is designed for kids whose cancer has come back or did not respond to standard treatment, aiming to shrink tumors and keep the therapy safe.
Memphis, TennesseeAges Up to 21 years - NCT04901702RecruitingPhase 1/Phase 2
Onivyde plus talazoparib or temozolomide for resistant solid tumors
This trial tests whether adding Onivyde to either talazoparib or temozolomide can shrink or control hard-to-treat (refractory or recurring) cancers in children and young adults. It aims to find safer dosing first, then look at how well the treatment works—especially for Ewing sarcoma.
Palo Alto, CaliforniaAges 1–30 - NCT04580368Recruiting
Personalized drug testing for cystic fibrosis using small trials
This trial tests how well cystic fibrosis (CF) medicine works for you using an “n-of-1” approach, meaning you try treatments in a structured, repeated way to see what helps you most. It may help your care team choose the best option for your specific CF genetics and health status.
Cincinnati, OhioAges 6 years+ - NCT03657693Recruiting
MRI test in newborns with breathing problems (BPD)
This study uses MRI (a special scan) to look at babies with bronchopulmonary dysplasia, a long-term breathing condition that can happen after being in the NICU. It aims to learn more about what’s happening in the lungs and how MRI can be used safely in these babies.
Cincinnati, OhioAges Up to 4 months - NCT04299828Recruiting
Study of inflammation activity during complex heart surgery
This study measures how active white blood cells and inflammation are during complex heart surgery using a heart-lung machine. It may help doctors better understand what triggers inflammation during surgery and how to improve care.
Boston, MassachusettsAges Any age - NCT04772963Recruiting
Genetics study for brain blood vessel malformations
This study looks at genetic (inherited DNA) factors in people with certain abnormal blood vessel connections in the brain or spinal cord. It may help researchers understand why these malformations happen and how they might behave over time.
ParisAges Any age - NCT04851119RecruitingPhase 1/Phase 2
Tegavivint for kids and young adults with hard-to-treat solid tumors
This early-phase study tests tegavivint to see how well it works and how safe it is for children and young adults with solid cancers that have come back or are not responding. It may be an option if your tumor type (including certain lymphomas or desmoid tumors) matches the study’s rules.
Birmingham, AlabamaAges 1–30 - NCT04848090Enrolling by invitation
Genetic testing for newborns in the hospital intensive care unit
This study uses whole-genome sequencing (a DNA test that looks across the genome) for newborns in the intensive care unit when doctors suspect a genetic condition. It aims to help identify possible genetic causes of illness and improve understanding for families and clinicians.
Pittsburgh, PennsylvaniaAges Up to 1 year - NCT04789746Enrolling by invitation
Physical fitness program for children with mobility challenges
This study tests a physical fitness program designed for children who have mobility challenges due to conditions like cerebral palsy. The program aims to improve fitness and overall well-being in a safe and supportive environment.
Chicago Heights, IllinoisAges 6–18 - 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 - NCT04784364Recruiting
Study of immune treatments at Mount Sinai
This study follows people who are receiving immune-related medications (called biologics or immune modulators) at Mount Sinai. It aims to better understand how these treatments affect the immune system and health over time, which may help improve future care.
New York, New YorkAges 12 years+ - NCT04849754Recruiting
Monitoring heart amyloidosis with a special scan
This study looks at how a type of heart condition called transthyretin cardiac amyloidosis changes over time, using a special imaging test called a bone scan. The goal is to see if the scan can help track the disease and potentially improve care.
LilleAges 18 years+ - NCT04784052RecruitingPhase 1/Phase 2
Briquilimab with reduced donor stem cell transplant for Fanconi anemia
This study tests whether a reduced-intensity donor stem cell transplant (with briquilimab as part of the conditioning) can safely treat bone marrow failure in people with Fanconi anemia. It may help by lowering how much intensive treatment is needed before the transplant, while still helping the donor cells grow.
Stanford, CaliforniaAges 2 years+
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,767 recruiting medical genetics studies from the U.S. registry right now, out of 5,497 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.