Fragile X Syndrome

Fragile X syndrome is a genetic condition that causes intellectual disability and developmental delays, particularly in males. Individuals with Fragile X syndrome typically have a normal life expectancy, but intellectual and developmental challenges may require lifelong support. Early intervention can improve outcomes.

  • Cause: Caused by a mutation in the FMR1 gene on the X chromosome, which leads to a lack of the fragile X mental retardation protein (FMRP), important for brain development. The condition is inherited in an X-linked dominant pattern.

  • Features: Intellectual disability (more severe in males), social and behavioral challenges (e.g., anxiety, repetitive behaviors, hyperactivity), delayed speech and language development, and sometimes physical features like a long face, large ears, and a prominent jaw.

  • Diagnosis: Confirmed through genetic testing for the FMR1 gene mutation.

  • Treatment: No cure; management focuses on symptoms with therapies (speech, behavioral, and occupational) and medications to manage behavioral or psychiatric issues.

Active Trials

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Past Trials

  • TITLE: Clinical Study of Cannabidiol in Children and Adolescents With Fragile X Syndrome.

    SPONSOR: Zynerba Pharmaceuticals, Inc.

    INDICATION: Fragile X Syndrome

    PROTOCOL: ZYN2-CL-033

    PHASE: 3

    DESCRIPTION: This is a randomized, double-blind, placebo-controlled, multiple-center study, to assess the efficacy and safety of Cannabidiol administered as ZYN002 for the treatment of children and adolescent patients with Fragile X Syndrome (FXS). Eligible participants will participate in up to an 18 week treatment period, where all participants will receive placebo or active study drug. Patients ages 3 to < 18 years, will be eligible to participate.

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia

  • TITLE: Open Label Extension to Assess the Long-Term Safety and Tolerability of ZYN002 in Children and Adolescents With FXS

    SPONSOR: Zynerba Pharmaceuticals, Inc.

    INDICATION: Fragile X Syndrome

    PROTOCOL: ZYN2-CL-017

    PHASE: 2 & 3

    DESCRIPTION: ZYN002 is a pharmaceutically manufactured Cannabidiol that is developed as a clear gel that can be applied to the skin (called transdermal delivery). The gel will be applied to clean, dry, intact skin of the shoulders and/or upper arms. Participants from the ZYN2-CL-016 and ZYN2-CL-033 studies who meet the inclusion criteria and none of the exclusion criteria for study ZYN2-CL-017 are eligible. Parents/caregivers will apply the study gel twice daily for the 52-week treatment period.

    STATUS: Active

    RECRUITING PATIENTS: No

    RDR LOCATION: Georgia