Clinical trials
Genetic Syndrome clinical trials
Below are recruiting genetic syndrome clinical trials, each written for real people, not researchers. We’re tracking 89 recruiting studies, each written for real people, not researchers, below.
Recruiting studies
- NCT07008612Recruiting
Study of MYT1L syndrome in children and adults
This study looks at MYT1L syndrome, a rare genetic condition that affects brain development. It aims to understand the disorder better by studying people with the syndrome and a comparison group.
RouenAges 6 years+ - NCT07563218Recruiting
Online skill-building program for teens and young adults with genetic conditions
This trial tests I-TOPS, an online program designed to help teenagers and young adults with genetic syndromes build practical life skills. You and a parent or caregiver would participate together from home using a computer and internet connection.
Bosisio Parini, LeccoAges 11–39 - NCT05432349Recruiting
Rett syndrome genetic registry for MECP2 changes
This trial is a registry that collects health and genetic information from people with Rett syndrome. It may help researchers better understand how MECP2 loss-of-function changes lead to symptoms and how to support patients.
Birmingham, AlabamaAges birth–99 years - NCT06914726Enrolling by invitation
Cancer risk follow-up care for hereditary syndromes
This study tests a tool to help primary care doctors provide better cancer prevention care for people with hereditary breast and ovarian cancer (HBOC) or Lynch syndrome (LS). It aims to ensure you're up-to-date on recommended screenings and preventive steps.
Minneapolis, MinnesotaAges 18 years+ - NCT06544018Recruiting
Sleep and body clock study for CAPS patients and family members
This study looks at how CAPS (a genetic condition that causes inflammation) affects sleep and daily body rhythms. It compares people with CAPS to healthy family members living in the same home, to understand differences without any treatment being tested.
BronAges 6 years+ - NCT07502586Recruiting
Genetic study for Turner syndrome and family
This study looks at the genetic causes of Turner syndrome. It involves people with Turner syndrome and their family members to learn more about the condition. If you or your family member has Turner syndrome, this study may help answer questions about genetics and health.
Bethesda, MarylandAges 1 day–110 years - NCT03385876Enrolling by invitation
Rapid whole genome sequencing for children with suspected genetic illness
This study quickly reads a child’s DNA using whole genome sequencing to look for genetic causes of symptoms. It may help families and doctors better understand an underlying genetic condition and guide medical care.
San Diego, CaliforniaAges Any age - NCT04463316Recruiting
Clinic study for people with rare genetic conditions
This study is for people who have a rare syndrome or rare congenital condition and are seen at a rare-disease clinic. It aims to better understand these conditions and how care works in a team setting, which may help guide future treatment decisions.
Rotterdam, South HollandAges 18 years+ - NCT06582914Recruiting
Lynch syndrome genetics and health study
This study looks at the genetics and health of people with Lynch syndrome, a condition that raises the risk for certain cancers. Researchers want to learn more about how different genetic changes affect health over time.
Aurora, ColoradoAges 18 years+ - NCT06441942Recruiting
Women with heart attack or unstable angina study
This study is a registry that collects information about women who have had a heart attack or unstable angina. The goal is to learn more about how these conditions affect women and improve care for women with heart disease.
Milan, Italy MilanAges 18–100 - NCT05528744Recruiting
Study genes and symptoms in ANKRD17-related CAGS
This study looks at how a specific gene change in ANKRD17 relates to the symptoms, brain/scan findings, and brain-cells in people with Chopra-Amiel-Gordon syndrome (CAGS). It may help families understand the condition better and connect gene results to what is seen clinically.
Boston, MassachusettsAges Any age - NCT05772611Recruiting
Study of immune responses in brain autoimmune and nerve syndromes
This study looks at how the immune system works in certain neurological conditions, including autoimmune encephalitis and related nerve disorders. Researchers may use blood and/or spinal fluid samples, especially when antibodies are present or can’t be found, to better understand what’s driving the illness.
LyonAges 18 years+ - NCT07081880Recruiting
Understanding SAPHO syndrome: genetics and immune response
This study looks at the causes of SAPHO syndrome—a rare condition that affects the skin, bones, and joints. Researchers want to understand how genes and the immune system play a role, which may help improve future treatments.
ParisAges 18 years+ - NCT07381985Enrolling by invitation
Managing hereditary cancer risk in rural areas
This study tests a way to help people with inherited cancer gene mutations manage their health, especially if they live in rural areas. You join if you found out about the mutation more than a year ago.
Burlington, VermontAges 18 years+ - NCT03185702Recruiting
Turner syndrome research registry for people with Turner syndrome
This registry study is collecting information from people who have Turner syndrome. It may help researchers better understand the condition and plan future studies that could lead to improved care.
Houston, TexasAges Any age - NCT07412028Recruiting
Gene study in women with severe insulin resistance and PCOS
This study is looking for women with a type of severe insulin resistance linked to genetics, especially those who have PCOS or a condition called lipodystrophy. The goal is to better understand the genes involved so doctors can offer more targeted treatments.
ParisAges 18–45 - NCT03124212Recruiting
Genetic testing guidance for inherited breast, ovarian, or colon cancer risk
This study helps people in Switzerland who already have a known inherited cancer gene change understand what it means for them and their family. It focuses on people with specific known mutations related to hereditary breast/ovarian cancer and Lynch syndrome.
Fribourg, Canton of FribourgAges 18 years+ - NCT07493096Recruiting
Intensive therapy program for children with brain-based conditions
This trial tests an intensive therapy program designed to help children with brain-based conditions like cerebral palsy or autism improve their skills in movement, thinking, and daily activities. The program runs for 2 weeks with daily sessions, and researchers will check for changes in your child's abilities.
The Woodlands, TexasAges 4–12 - NCT05129605Recruiting
Prostate cancer genetic risk screening study for men
This study looks at your personal and family risk for prostate cancer and helps decide who should have extra screening like MRI. It may help you find cancer earlier if you are at higher genetic risk.
Boston, MassachusettsAges 35–74 - NCT06666777Recruiting
Speech therapy and parenting for early communication skills
This study tests a program that combines speech therapy with parenting support to help young children with developmental delays improve their communication and social skills. It is designed for children aged 6 months to 5 years who have developmental challenges, and their parents.
Como, ComoAges 6 months–4.9 years - NCT07015203Recruiting
First trimester combined screening study
This study offers a combined screening test for pregnant women in their first trimester. It helps check for potential health issues early in pregnancy.
Most, CzechiaAges 18 years+ - NCT05664867Recruiting
Program study for hereditary breast or colon cancer counseling in clinics
This study helps clinics roll out cancer genetic counseling services for people who may have inherited cancer risk. If you may need genetic testing for hereditary breast or colon cancer, you can be interviewed about your experience with these services.
Chicago, IllinoisAges 25 years+ - NCT06786754Enrolling by invitation
Skin cell study for Marfan syndrome and aortic aneurysms
This study looks at skin cells (fibroblasts) from people with Marfan syndrome or other genetic conditions that cause thoracic aortic aneurysms. The goal is to understand how these cells behave, which may help improve future treatments.
San Donato Milanese, MilanAges 18 years+ - NCT06952413RecruitingPhase 2
Rituximab for chronic fatigue syndrome (ME/CFS) trial
This trial tests if rituximab, a drug that affects the immune system, can help people with ME/CFS. You'll receive the drug in the hospital and be monitored for safety and improvement.
Kodaira, TokyoAges 18–65
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Common questions
- Are there clinical trials for genetic syndrome?
- Yes. Clin2 currently lists 89 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.