Clinical trials
Genetic Syndrome clinical trials
Below are recruiting genetic syndrome clinical trials, each written for real people, not researchers. We’re tracking 90 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT01238250Recruiting
Online autism genetics study for families with certain genetic changes
This study asks people with specific genetic changes linked to autism and their family members to complete online tasks and questionnaires. It may help researchers better understand how these genetic differences relate to autism traits.
Boston, MassachusettsAges Any age - NCT05767216Recruiting
Study of genetic and epigenetic differences in twin pairs with Down syndrome
This study looks at how genetics and gene-regulation (how genes turn on and off) differ between close family members who have different Down syndrome status. Researchers hope the findings will help explain why Down syndrome outcomes can vary even in very closely related people.
ParisAges 4–11 - NCT03718936Recruiting
Study of genetic ADNP conditions in children and adults
This study looks at how people with certain disease-causing changes in the ADNP gene function using medical, genetic, and thinking/behavior assessments. It may help doctors better understand the condition and tailor support for families.
New York, New YorkAges 2 years+ - NCT07567664Enrolling by invitation
Brain Changes in Neurodegenerative Diseases: A Tracking Study
This research study tracks how brain damage progresses in rare neurodegenerative diseases like frontotemporal dementia, primary progressive aphasia, PSP, CBS, and ALS. Researchers use brain imaging and tests to understand how these diseases spread in the brain, which could help develop better treatments.
Milan, LombardyAges 20–85 - NCT02958462Recruiting
Clinic study for early blood or bone marrow warning signs
This study follows people who may have early, unclear blood count problems or certain genetic/immune patterns that can later lead to bone marrow failure or blood cancers. It may help doctors better understand risks over time and guide earlier care.
Scottsdale, ArizonaAges 18 years+ - NCT07329257Recruiting
Project PENGUIN: Study of rare brain development disorders
This study looks at rare and ultra-rare conditions that affect brain development. It aims to learn more about what causes these conditions. You may join if you or your child have a diagnosed or suspected neurogenetic disorder.
Columbia, MissouriAges Up to 99 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 - NCT05656365Recruiting
Study of genes and immunity in PFAPA and other tonsil problems
This study looks at genetic markers and immune system patterns in people with PFAPA (periodic fevers with mouth sores and throat/neck gland symptoms) or similar tonsil problems. It may help researchers understand why these conditions happen and how they might be better diagnosed or treated.
Washington D.C., District of ColumbiaAges 1 month–99 years - NCT06912828Recruiting
Genes and diet for IBS
This trial is studying whether your genes can predict how well a special diet will help your IBS symptoms. If you have moderate to severe IBS and no other diet-related conditions, you may be able to take part.
AthensAges 18–65 - NCT05577988RecruitingPhase 3
Genetic-guided weaker blood thinner vs stronger standard therapy
This study tests whether switching early to a weaker anti-platelet medicine based on your genetics can reduce bleeding problems in people at high risk for bleeding after a heart attack. It compares this approach to the usual strategy of staying on a stronger anti-platelet medicine.
Paris, IDFAges 18 years+ - NCT03718923Recruiting
Study for people with FOXP1 gene changes
This study looks at how people with FOXP1-related neurodevelopmental conditions work and how they’re affected, using genetic, medical, and thinking/learning tests. It may help researchers better understand the condition and improve future care.
New York, New YorkAges 2 years+ - NCT03059420Recruiting
Genetic study of strabismus and certain birth eye-movement disorders
This study looks for genetic (inherited DNA) causes of strabismus (eyes that don’t line up) and certain birth conditions that affect eye movement and brainstem/cranial nerves. Your participation may help researchers better understand these conditions and guide future testing and care.
Boston, MassachusettsAges 1 day+ - NCT06760546RecruitingPhase 3
Testing setmelanotide for weight gain after brain injury
This trial tests a daily injection called setmelanotide to see if it can help people who have gained weight due to a brain injury or condition affecting the hypothalamus. It may help reduce hunger and support weight loss.
Birmingham, AlabamaAges 4 years+ - NCT06917794Enrolling by invitation
Genetic risk study for colon cancer patients
This study looks at how your genetic background and ancestry affect your risk for colon cancer. If you have been diagnosed with colon cancer and have a tumor sample available, you may be able to help researchers develop better risk scores.
Fortaleza, CearáAges 18 years+ - NCT03510442Recruiting
Study of joint illness patterns and genes in juvenile and adult diseases
This study follows people with systemic juvenile idiopathic arthritis (sJIA), adult-onset Still’s disease (AOSD), and similar conditions to learn how the illness works over time. It also collects blood and family information to study genetics and explain what causes flare-ups, which may help future care.
Bethesda, MarylandAges 1 day–100 years - 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+ - NCT01793168Recruiting
Rare disease registry and history study
This study keeps a registry (a structured list) of people with rare diseases and may also track how the condition changes over time. It can help researchers better understand rare illnesses and find gaps in care, which may improve future treatments.
Sioux Falls, South DakotaAges Any age - NCT06523582Recruiting
Genetic study of neuroendocrine tumors in Mexican patients
This study aims to find genetic causes of neuroendocrine tumors in Mexican patients. By understanding your DNA, researchers hope to improve diagnosis and treatment for people with these rare conditions.
Mexico City, Mexico CityAges 18 years+
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Common questions
- Are there clinical trials for genetic syndrome?
- Yes. Clin2 currently lists 90 recruiting genetic syndrome 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 syndrome 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 syndrome 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.