Fragile X syndrome
MONDO:0010383A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.
Also known as: FRAXA syndrome, FXS, FraX syndrome, Fragile X syndrome, X-linked dominant, Martin-Bell syndrome, fragile X intellectual disability syndrome, fragile X syndrome, marker X syndrome
28 clinical trials for this condition and its sub-types.
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Broader categories
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New study tests medications for brain symptoms in three genetic disorders
Disease control Recruiting nowThis study looks at thinking and mental health issues in people with Velocardiofacial, Williams, and Fragile X syndromes. Researchers will test how well medications like methylphenidate, fluoxetine, and risperidone improve these symptoms. The goal is to better understand and trea…
Phase: PHASE4 • Sponsor: The Chaim Sheba Medical Center • Aim: Disease control
Last updated Jun 27, 2026 11:03 UTC
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New exercise program aims to get adults with intellectual disability moving more
Disease control Recruiting nowThis study tests a 16-week inclusive exercise program called PACE for adults with intellectual disability. Participants will attend fitness classes, meet with coaches, and use a web dashboard to set goals. The trial includes 376 people and will measure daily steps and moderate-to…
Phase: NA • Sponsor: University of North Carolina, Chapel Hill • Aim: Disease control
Last updated Jun 27, 2026 09:08 UTC
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Light-Based brain scan could revolutionize diagnosis of rare genetic disorders
Diagnosis Recruiting nowThis study is testing whether a non-invasive brain imaging technique called fNIRS can reliably measure brain function in people with Fragile X syndrome or Creatine Transporter Deficiency. Researchers will use a cartoon-based visual stimulus to record brain activity and compare it…
Phase: NA • Sponsor: Hospices Civils de Lyon • Aim: Diagnosis
Last updated Jun 27, 2026 12:34 UTC
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Blood test could replace risky needle for prenatal genetic diagnosis
Diagnosis Recruiting nowThis study is testing a new blood test that can diagnose single-gene disorders in unborn babies using a sample from the mother. The test looks at fetal DNA found in the mother's blood, which is safer than traditional invasive methods that carry a small risk of miscarriage. Resear…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Diagnosis
Last updated Jun 27, 2026 12:23 UTC
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New drug trial aims to ease fragile x symptoms in men
Symptom relief Recruiting nowThis study tests a new medicine called CTH120 in 30 adult men with Fragile X syndrome. The main goal is to see if the drug is safe and tolerable, while also checking if it helps improve symptoms. Participants will receive the drug and be monitored closely for side effects and cha…
Phase: PHASE2 • Sponsor: Connecta Therapeutics, S.L. • Aim: Symptom relief
Last updated Jun 27, 2026 14:00 UTC
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New drug trial hopes to ease fragile x symptoms in boys and men
Symptom relief Recruiting nowThis study tests an experimental drug called MRM-3379 in males aged 13 to 45 with Fragile X Syndrome. The goal is to see if the drug is safe and can improve symptoms like learning and behavior. Participants will take the drug or a placebo for 12 weeks. The study is currently recr…
Phase: PHASE2 • Sponsor: Mirum Pharmaceuticals, Inc. • Aim: Symptom relief
Last updated Jun 27, 2026 14:00 UTC
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Can a video-based therapy tame tough behaviors in kids with rare genetic disorders?
Symptom relief Recruiting nowThis study tests a virtual behavioral therapy (Functional Behavioral Training) for children aged 2-12 with genetic syndromes like Fragile X, Angelman, or Rett syndrome who have challenging behaviors. The therapy teaches parents how to identify what triggers problem behaviors and …
Phase: NA • Sponsor: Rush University Medical Center • Aim: Symptom relief
Last updated Jun 27, 2026 08:13 UTC
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Sound therapy may tame sensory overload in fragile x kids
Knowledge-focused Recruiting nowThis study explores whether playing specially designed sounds through headphones can normalize brain activity in children aged 5-10 with Fragile X Syndrome or autism. The goal is to reduce sensory sensitivity and improve learning. Participants will listen to sounds while their br…
Phase: NA • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:02 UTC
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Intensive brain training shows promise for kids with developmental delays
Knowledge-focused Recruiting nowThis study looks at how a 2-week, personalized therapy program helps children aged 4-12 with conditions like cerebral palsy, autism, or genetic disorders. Kids get about 2.5 hours of tailored therapy each day, focusing on skills like movement, attention, and communication. The go…
Sponsor: Healing Hope International • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:00 UTC
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Brain scans reveal how fragile x babies hear the world
Knowledge-focused Recruiting nowThis study looks at how babies and toddlers with Fragile X Syndrome perceive sounds and learn language. Researchers will use brain imaging, hearing tests, and behavioral assessments to track differences in sound processing. The goal is to better understand early signs of speech a…
Phase: NA • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:03 UTC
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Brain scans reveal how noise affects speech in autism and fragile x
Knowledge-focused Recruiting nowThis study looks at how the brain processes speech when there is background noise, in people with autism, Fragile X syndrome, and those without either condition. About 60 participants will complete hearing tests, questionnaires, and brain-recording tasks while listening to sounds…
Phase: NA • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Knowledge-focused
Last updated Jun 27, 2026 11:02 UTC