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
- NCT04509050Recruiting
Testing a highly effective CF medicine in young children
This study looks at how well a highly effective cystic fibrosis (CF) medicine works in infants and young children, and what biological changes it causes. It may help families understand whether the medicine improves CF function and related measures early in life.
Birmingham, AlabamaAges Up to 10 years - NCT04530383RecruitingPhase 2
Metformin add-on for adult cystic-fibrosis related diabetes on CF meds
This trial tests whether adding metformin can improve blood-sugar control and related lung cell function in adults who have cystic-fibrosis–related diabetes (CFRD) and are already taking CFTR modulator therapy. It may help if your diabetes is still not well controlled despite those CF medicines.
Kansas City, KansasAges 18 years+ - NCT04494945Recruiting
Help for people with inherited cancer risk genes
This study helps identify people who may have an inherited cancer risk and checks how best to support them. Depending on the group, you may only fill out surveys, or you may also create an app account and possibly provide a DNA sample.
Portland, OregonAges 18 years+ - NCT04569162Recruiting
RCDP patient registry for children with related genetic conditions
This trial is a registry that collects medical and genetic information from people with rhizomelic chondrodysplasia punctata (RCDP) or closely related conditions. It helps researchers better understand the condition and plan future studies that could lead to better care.
Wilmington, DelawareAges Any age - NCT04571658Recruiting
NEPTUNE Match study linking you to possible kidney research trials
This study is an add-on process that uses information from the NEPTUNE kidney study to see whether you might be able to join other kidney research trials. It may help connect eligible people with appropriate new treatment studies when they become available.
Atlanta, GeorgiaAges 1–80 - NCT04532047RecruitingPhase 1
Fetal enzyme therapy trial for certain inherited storage disorders
This Phase 1 trial tests an enzyme replacement treatment given to a developing baby before birth for specific inherited “lysosomal storage” diseases. The goal is to see if the treatment is safe and can improve outcomes for babies diagnosed in pregnancy.
San Francisco, CaliforniaAges 18–50 - NCT04579211Enrolling by invitation
Urine testing to skip repeated NTM sputum checks in cystic fibrosis
This study looks at whether a urine test (instead of repeated sputum—mucus—from the lungs testing) can help determine who with cystic fibrosis does not have certain lung germs called NTM. If the urine test works, it could reduce the need for lung sample testing while still keeping people safe.
Denver, ColoradoAges 18 years+ - NCT04583644Recruiting
Fetal airway balloon procedure for severe left lung underdevelopment
This pilot study tests a fetal procedure (placing a tiny balloon in the fetus’s airway) to improve lung growth in pregnancies affected by severe left congenital diaphragmatic hernia (CDH). You may be eligible if your baby’s condition is isolated to the left side and the testing shows very high lung underdevelopment, and if you can meet study and payment requirements.
San Francisco, CaliforniaAges 18 years+ - NCT04586075Recruiting
Get help finding the cause of an undiagnosed genetic condition
This study evaluates people whose medical cause is still unclear even after genetic tests and other workups. It uses coded health data and lab samples to look for a new or rare genetic cause, and it may return additional (“secondary”) genetic findings.
Madison, WisconsinAges Up to 100 years - NCT04541654Recruiting
Study of families with TP53 gene changes in Li-Fraumeni syndrome
This study is looking at how people in families with certain TP53 gene changes (including Li-Fraumeni syndrome) develop health problems over time. It may help doctors better understand risk and improve care for affected families.
Boston, MassachusettsAges Any age - NCT04529967Recruiting
Screening kids for inherited high cholesterol
This study checks children ages 1 to 3 during routine care to see who may have familial hypercholesterolemia, a genetic condition that causes high cholesterol. Early identification can help families learn about next steps and prevention.
Hefei, AnhuiAges 1–3 - NCT04404530Recruiting
Study nutrition changes from Palynziq in adults with PKU
This study looks at how taking Palynziq affects your nutrition and health in people with phenylketonuria (PKU). You might benefit by getting careful monitoring while researchers learn how the medicine changes diet-related measurements.
Atlanta, GeorgiaAges 16 years+ - NCT01851694Recruiting
Study incretin hormone response in adults with cystic fibrosis
This study tests how the body’s “incretin” hormones affect insulin (sugar control) in adults with cystic fibrosis and certain blood sugar patterns. It may help explain what drives diabetes risk in cystic fibrosis and how the body responds to these hormone signals.
Philadelphia, PennsylvaniaAges 18 years+ - NCT04440254Recruiting
Long ECG monitoring for Fabry disease heart rhythm
This study checks how your heart’s electrical rhythm looks over a longer period using an ECG (a heart rhythm recording) in people with Fabry disease. It may help doctors understand heart rhythm changes better so future care can be more tailored and safer.
Paris, ParisAges 18 years+ - NCT04394871Recruiting
Study of ALS and related genetic nerve disorders using scans and fluid tests
This study looks at signs and biology (biomarkers) in people with certain inherited nerve conditions caused by RNA-processing gene changes. It may help researchers understand disease patterns and measure health changes using MRI scans and sometimes a spinal fluid test.
Bethesda, MarylandAges 5–120 - NCT04398628Recruiting
Study of non-cancer blood disorders in people with bleeding or clotting
This study follows people with inherited or acquired non-cancer blood disorders to better understand symptoms, causes, and how different treatments work over time. You may be placed into a disorder-specific group, depending on your diagnosis and testing results.
Phoenix, ArizonaAges Any age - NCT04416178Recruiting
Survey and interviews for families affected by sickle cell disease
This study collects feedback through surveys, interviews, and focus groups from people affected by sickle cell disease. Your input helps the research team improve how genomic and gene-therapy information and needs are understood for patients and caregivers.
Memphis, TennesseeAges 13 years+ - NCT04475510Recruiting
Stop blood-thinner therapy after PFO closure in younger stroke patients
This trial tests whether it’s safe to stop antithrombotic (blood-thinner) treatment after a successful hole-in-the-heart procedure (PFO closure) in people age 60 and under who had an unexplained stroke or TIA. It may help some people avoid long-term blood-thinner side effects if their risk stays low.
Québec, QuebecAges 18–60 - NCT04423484Recruiting
Treatment plan study for newly diagnosed one kidney tumor
This trial looks at what treatment recommendations work best for children with a nephroblastoma (Wilms tumor) that is in only one kidney and has not been treated yet. It may help doctors choose the best next steps for care while the child’s overall health supports treatment.
OuagadougouAges 6 months–18 years - NCT04455906Recruiting
Study why some people with eczema get more severe
This study looks at why disease tends to be more severe in some people with atopic dermatitis (eczema), especially those with a specific genetic change in the IL-4 receptor (IL-4Ra). The results may help explain what drives flare-ups and could guide better treatments in the future.
Boston, MassachusettsAges 6–65 - NCT04449068Recruiting
Tourette research using records from deep brain stimulation patients
This study is collecting information about people with severe Tourette syndrome who are not adequately helped by medication and may receive deep brain stimulation. It helps researchers understand outcomes and care patterns for this treatment over time using an observational database.
ParisAges 15 years+ - NCT04459689Recruiting
COVID-19 study for people with primary immune deficiencies
This study looks at COVID-19 experiences in people who have a primary immune deficiency (a long-term immune problem) and who have had COVID-19. It may help researchers better understand how COVID-19 affects people with these conditions.
ParisAges birth+ - NCT04381611Enrolling by invitation
Study of glaucoma surgeries and laser treatments over time
This study looks at people with glaucoma or high eye pressure to understand how surgeries and laser treatments affect long-term outcomes. It may help doctors predict which treatments work best for different patients.
Lausanne, Canton of VaudAges 1–100 - NCT04427163Recruiting
Study of health differences using blood and data profiles
This study looks at how people’s health and disease risk show up in multiple types of information collected together (like blood-related measures and other data). It may help researchers understand what patterns are linked to health versus future disease.
OlomoucAges 18–68
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.