Clinical trials
Genetic Disease clinical trials
Below are recruiting genetic disease clinical trials, each written for real people, not researchers. We’re tracking 224 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT00006150Recruiting
Understanding Hyper-IgE Syndrome: Natural History and Genetics
This study follows people with or suspected Hyper-IgE syndrome (a rare immune disorder causing repeated infections and skin problems) to understand how the condition develops, how best to manage it, and which genes are involved. Researchers also welcome healthy relatives of patients to help identify genetic patterns.
Bethesda, MarylandAges 1 month–120 years - NCT05519475RecruitingPhase 2
Gene-silencing medicine trial for adults with MASH and liver scarring
This Phase 2 study tests a gene-silencing treatment to improve chronic liver disease called MASH, especially in people with certain genetic risk. You may be eligible if you have MASH with moderate-to-advanced scarring and specific test results, and if other liver causes and recent substance/alcohol issues don’t apply.
Chandler, ArizonaAges 18–75 - NCT02190266Recruiting
Study genetics and cause of hard-to-treat Valley fever
This study looks at why “Valley fever” is difficult to treat or has spread beyond the lungs, and how a person’s genetics may be involved. You may be asked for blood or other samples for genetic testing and for storing samples for future research.
Bethesda, MarylandAges 2–100 - NCT07102966Recruiting
Genetic study for babies with birth defects in Texas
This study looks for genetic causes of birth defects in newborn babies. If your baby has a suspected genetic condition and other tests haven't found a clear cause, this study may help find answers.
Houston, TexasAges 1 day–3 months - NCT06944067Recruiting
Genetic risk of immune response after blood transfusions in sickle cell disease
This study looks at whether certain genes make people with sickle cell disease more likely to develop an immune reaction to blood transfusions. It aims to help doctors predict transfusion risks and improve care.
Bethesda, MarylandAges 2–99 - NCT03610802Recruiting
Send blood samples to study genetic and immune differences
This study collects blood (and sometimes related samples) to learn how genes and the immune system work in people with primary immunodeficiency (PID) or in family members who may not have it. The goal is to improve understanding of rare immune conditions and help guide future care.
Bethesda, MarylandAges 1 day–99 years - NCT06826157Enrolling by invitation
Brain Wave Patterns in Early Memory Loss and Dementia
This study uses an advanced EEG (electroencephalogram) to measure brain wave activity in people with early Alzheimer's, frontotemporal dementia, or Lewy body dementia. It aims to find patterns that could help doctors better understand the disease and predict how it might progress.
Milan, ItalyAges 50–85 - NCT02257892Recruiting
Study of rare immune system genetic disorders
This study looks for genetic causes of immune problems, such as unusually frequent infections, abnormal allergies, or autoimmune or inflammation conditions. It may help by improving how doctors understand these disorders and by matching families with possible genetic diagnoses.
Bethesda, MarylandAges 3–99 - NCT04106518Recruiting
Genetics study of alcohol-related liver disease and cirrhosis
This study looks at genetic differences in people with alcohol-related liver illness, including a recent jaundice episode (alcoholic hepatitis). By following people over time, it may help doctors better predict illness and understand why some people develop worse liver problems.
AngersAges 18 years+ - NCT07358013Recruiting
Endothelial cells in von Willebrand disease and related conditions
This study looks at special cells from blood vessels (endothelial colony-forming cells) in people with von Willebrand disease (a bleeding disorder) or a related acquired condition. The goal is to better understand these conditions using blood donations.
MilanAges 16 years+ - NCT00001467Recruiting
Study of genes in immune disorders
This research looks at how inherited (genetic) changes may affect the immune system in people with immune problems. It may help by improving understanding of these conditions and, in some cases, guiding faster care for a baby after birth.
Bethesda, MarylandAges 1 day–101 years - NCT01193088Recruiting
Study genetics to find who modifies Charcot-Marie-Tooth (CMT)
This study looks at DNA changes in families with Charcot-Marie-Tooth (CMT), especially a known gene duplication called PMP22. It aims to understand what other genetic factors may change how CMT shows up, which could help future diagnosis and care.
Los Angeles, CaliforniaAges Any age - NCT06507007Recruiting
Inner ear function in Turner syndrome
This study looks at why some people with Turner syndrome have inner ear problems. It uses MRI and CBCT scans to understand the genetic and epigenetic causes.
HerningAges 18–60 - NCT05659147Enrolling by invitationPhase 4
MRI study of pancreas function in children with pancreatic issues
This study uses a special pancreas MRI to see how well the pancreas works and how pancreas disease changes over time. It also compares MRI findings in children with different pancreas conditions, including suspected pancreatic insufficiency and episodes of pancreatitis.
Cincinnati, OhioAges 5–21 - NCT04514445Recruiting
Study of genes in people with bicuspid aortic valve
This study looks for genetic (inherited) differences that may be linked to bicuspid aortic valve (BAV). It includes people with BAV and close family members to help understand why BAV happens and whether genes play a role.
KetteringAges 10–99 - NCT03987633Recruiting
Study links health records and samples to understand health gaps
This study asks people affected by a specific illness (or their family member) to share saliva (and sometimes blood) and answer health and quality-of-life questions. The goal is to better understand and reduce health inequality by matching new information with medical records.
Wolverhampton, West MidlandsAges 6 years+ - NCT01109420Recruiting
Family study of non-medullary thyroid cancer and genetics
This study looks at families affected by non-medullary thyroid cancer to understand patterns and possible genetic risk. You may be able to join even if you personally do not have the cancer, as long as you have the right family history and can complete a questionnaire.
Bethesda, MarylandAges 7–90 - NCT06991114RecruitingPhase 2
AlloNK and rituximab for relapsing rheumatologic diseases
This trial tests a new natural killer (NK) cell therapy called AlloNK given with rituximab for people with certain autoimmune diseases (rheumatoid arthritis, Sjögren's disease, inflammatory myopathies, or systemic sclerosis) that have not responded well to standard treatments. The goal is to see if this combination can better control the disease.
Tuscaloosa, AlabamaAges 18 years+ - NCT02504853Recruiting
Study food allergy patterns and genetics over time
This study follows people with food allergy and some closely related or healthy people to learn how food allergy (and related conditions) develops over time. It may help researchers find causes and better ways to predict and treat food allergy.
Bethesda, MarylandAges 1 day–99 years - NCT00001987Recruiting
Understanding genetics of insulin resistance and diabetes
This research study looks at the genes and immune system factors that cause severe insulin resistance—a condition where the body doesn't respond well to insulin. Researchers want to understand why some people develop this problem and study family members and healthy volunteers to learn more.
Bethesda, MarylandAges 6 months–120 years - NCT07217522Recruiting
Genetics of pulmonary hypertension study
This study looks at the genes that may be linked to pulmonary hypertension. By providing a saliva sample and filling out a health survey from home, you can help researchers learn more about this condition.
Piscataway, New JerseyAges 18 years+ - NCT04521790Recruiting
Biopsy-guided treatment for suspected inflammation of the heart
This study looks at people 18 and older with suspected myocarditis (inflammation of the heart). It uses an inner-heart biopsy and tailored treatment based on the likely cause to improve diagnosis and care, especially for people with different heart rhythm or non-rhythm symptoms.
Milan, MilanoAges 18 years+ - NCT06591260Recruiting
Heart biopsy and treatment for kids with heart inflammation
This study looks at using heart biopsies to find the cause of heart inflammation (myocarditis) in children and then tailoring treatment to that cause. It aims to improve care for children with or without irregular heartbeats.
Milan, MilanoAges birth–17 years - NCT02692885Recruiting
Study body fat tissue to learn how it affects metabolism
This study looks at samples of body fat to understand what controls metabolism (how your body uses energy). You may be asked for a fat tissue sample during surgery or through a special biopsy scan, depending on your situation.
Bethesda, MarylandAges 18–90
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Common questions
- Are there clinical trials for genetic disease?
- Yes. Clin2 currently lists 224 recruiting genetic disease studies from the U.S. registry, each rewritten for real people, not researchers, so you can see what it’s testing and who it’s for.
- How do I know if I qualify for a genetic disease trial?
- Each study lists its eligibility criteria — rules about age, diagnosis, and prior treatments. On every Clin2 trial page we explain these in words written for real people and offer a short, optional pre-screen for a fit read. The study team makes the final decision.
- Does it cost anything to join a genetic disease trial?
- Using Clin2 is always free. Many trials cover the cost of the study treatment and related visits; some reimburse travel. The study team explains exactly what’s covered before you decide.
Related conditions
Clin2 helps you find and understand clinical trials and does not provide medical advice. Study data comes from ClinicalTrials.gov. Talk with your doctor about whether a specific trial is right for you.