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
34 clinical trials for this condition and its sub-types, 34 tagged with Fragile X syndrome itself.
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Browse by category →Sub-types of Fragile X syndrome
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Fragile X syndrome type 1 0 trials
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Fragile X syndrome type 2 0 trials
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Fragile X syndrome type 3 0 trials
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Can early parent coaching help infants with rare genetic disorders thrive?
Disease control By invitation onlyThis study tests a program called PIXI that coaches parents of infants diagnosed with rare neurogenetic disorders (such as Fragile X, Angelman, or Down syndrome) during the first year of life. The program combines education about the disorder, guided parent-child interaction acti…
Sponsor: RTI International • Aim: Disease control
Last updated Jul 15, 2026 00:00 UTC
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CBD gel tested for Long-Term safety in fragile x kids and young adults
Disease control OngoingThis study looks at the long-term safety of a CBD gel (ZYN002) applied to the skin for children, teens, and young adults with Fragile X syndrome. Participants from two earlier studies will use the gel twice daily for 52 weeks. The main goal is to check for side effects, with a se…
Phase 2/3 • Sponsor: Zynerba Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:38 UTC
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New drug shows promise for Long-Term fragile x management
Disease control OngoingThis 4-year study tests the long-term safety of the drug BPN14770 (zatolmilast) in 314 people with Fragile X syndrome who completed earlier trials. Participants include adult males and adolescents. The main goal is to see if the drug is safe over time, with secondary measures loo…
Phase 3 • Sponsor: Tetra Discovery Partners • Aim: Disease control
Last updated Jun 27, 2026 07:53 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Can a video-based therapy tame tough behaviors in kids with rare genetic disorders?
Symptom relief OngoingThis 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 …
Sponsor: Rush University Medical Center • Aim: Symptom relief
Last updated Sep 20, 2026 00:00 UTC
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Can a single dose ease fragile x? new trial tests three drugs
Symptom relief OngoingThis study tests whether a single dose of baclofen, roflumilast, or memantine can improve brain activity and symptoms in adults with Fragile X syndrome. Forty-five participants aged 18 to 45 will receive each drug or a placebo in separate sessions. The main goal is to measure cha…
Phase 2 • Sponsor: Children's Hospital Medical Center, Cincinnati • Aim: Symptom relief
Last updated Jun 27, 2026 08:06 UTC
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Can a simple test track ADHD med effects in kids with intellectual disability?
Symptom relief By invitation onlyThis study looks at whether a set of thinking and memory tests can detect changes caused by a stimulant medication in children aged 6 to 17 who have both intellectual disability and ADHD. About 68 participants will receive either the medication or a placebo, then switch after a b…
Phase 1 • Sponsor: University of California, Davis • Aim: Symptom relief
Last updated Jun 27, 2026 08:04 UTC