Medical genetics
Genetic & congenital clinical trials
Inherited and congenital conditions present from birth or written into the genes. We’re tracking 3,859 recruiting studies in this area right now.
By phase
- Not applicable2,773
- Phase 2283
- Phase 1236
- Phase 3215
- Phase 1/Phase 2203
- Phase 497
- Phase 2/Phase 352
Top conditions
- Sickle Cell Disease142
- Atopic Dermatitis128
- Congenital Heart Disease85
- Cystic Fibrosis78
- Down Syndrome55
- Genetic Disease42
- Duchenne Muscular Dystrophy39
- Fabry Disease38
- Hemophilia A38
- 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 Cancer Institute (NCI)23
Where studies are running
- California341
- Maryland161
- Alabama131
- Massachusetts116
- New York84
- Arizona78
- Texas72
- Minnesota67
- Pennsylvania66
- Ohio57
Recruiting studies3,859 total
- NCT04806620Recruiting
Online app study for brain inflammation lifestyle data
This study uses a digital platform (app/website) to collect lifestyle and symptom information to better understand brain inflammation. You may qualify if you have certain conditions like Long COVID, migraines, autoimmune disease, inflammatory gut issues, mood disorders, or if you are a healthy comparison person.
Delafield, WisconsinAges 2 years+ - NCT04815005Recruiting
Registry study for people with HoFH
This study is a registry (a list that collects health information) for people with homozygous familial hypercholesterolemia, a genetic cholesterol condition. It helps researchers understand this condition better and connect patients with future research.
Philadelphia, PennsylvaniaAges Any age - NCT04817462Recruiting
Liver biopsy in people with haemophilia gene therapy
This study takes a small liver tissue sample (a liver biopsy) in men who previously received haemophilia gene therapy. The goal is to learn more about how the gene therapy works and how safe it is for the liver.
LondonAges 18–80 - NCT04827498Recruiting
Testing heart blood-flow problems without clogged arteries
This study looks at how well the heart’s blood vessels work in people who have symptoms of reduced blood flow but no major artery blockage. It uses special heart tests with medicines to check how the vessels respond and may help guide better diagnosis and treatment.
MadridAges 18 years+ - NCT04826744Recruiting
Atopic dermatitis study tracking eyelid involvement
This study looks at how often the eyelids are affected in adults with atopic dermatitis (a long-term skin condition). It may help doctors better understand patterns of skin and eyelid symptoms so care can be improved.
LilleAges 18 years+ - NCT04848844Recruiting
Congenital heart disease transplant registry study for adults
This study collects and shares anonymous information about adults being considered for a heart transplant because of a congenital (from birth) heart problem or an inherited heart muscle condition. The goal is to better understand these patients and support research that may improve care.
HamburgAges 18 years+ - 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 - NCT04851678Recruiting
Study how stress affects adults with Tourette syndrome
This study follows adults with Tourette syndrome over time to better understand how stressors affect symptoms and daily life. It may help researchers learn what factors make symptoms better or worse and improve future care.
Nashville, TennesseeAges 18 years+ - 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+ - 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+ - 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 - NCT04868578Recruiting
Vitamin PPI supplements for ectopic calcification in PXE
This trial studies whether taking PPI-type supplements can slow or reduce unwanted calcification in people with PXE. It’s meant to help manage disease changes caused by abnormal calcium deposits, based on your medical testing.
AngersAges 18–65 - 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 - NCT04875702RecruitingPhase 4
Compare urate targets to reduce gout attacks or symptoms
This study compares two different treatment goals for a blood level called urate in people with gout. The goal is to see which approach lowers gout flares better while helping people feel better.
South Birmingham, AlabamaAges 18–90 - NCT04880356Recruiting
Study of very rare inherited brain diseases over time
This study follows adults over time who have a very rare inherited brain disease, or whose illness seems like it may run in families. The goal is to better understand these conditions and how they progress.
Milan, MilanoAges 18 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+ - NCT04885179Recruiting
Study of SPLIS genetics and patient experiences
This observational study and patient registry collects information from people diagnosed with SPLIS due to specific changes in the SGPL1 gene, including children and newborns. It helps researchers understand the condition better and may improve future care and research planning.
San Francisco, CaliforniaAges Any age - 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 - 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+ - 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 - NCT04898114RecruitingPhase 1/Phase 2
Inhaled magnesium and sildenafil for newborn lung blood pressure
This study tests whether breathing in magnesium sulfate and giving sildenafil can improve breathing and lung blood vessel pressure in newborns with persistent pulmonary hypertension. It may help newborns who are having trouble oxygenating despite being on a ventilator.
SohagAges 6 hours–3 days - 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 - 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 - NCT04902807Recruiting
Tool to help decide diagnosis and treatment in immune disorders
This trial tests a tool (a way of collecting health information) to help doctors make better diagnosis, prognosis, and treatment decisions for children with certain immune problems. It also includes healthy children (like relatives) as comparison groups, to see how well the tool works.
ParisAges 1–18
Common questions
- How many genetic & congenital clinical trials are recruiting?
- Clin2 is tracking 3,859 recruiting medical genetics studies from the U.S. registry right now, out of 5,745 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.