Fragile X Syndrome

FXS is a rare genetic condition that causes intellectual disability, anxiety disorders, social avoidance, behavioral and learning challenges and various physical characteristics. It is the leading known genetic cause of both inherited intellectual disability and autism spectrum disorder.

The behavioral symptoms of FXS are linked to deficiencies in the endocannabinoid (EC) system. ECs form a system of neurotransmitters regulating emotional responses, behavioral reactivity to context, and social interaction. FXS patients are born with a mutation in a gene called the Fragile X Mental Retardation Gene, or FMR1, which leads to dysregulation of the EC system, resulting in the core cognitive, social, and behavioral symptoms seen in FXS.

The impairment can range from learning disabilities to more severe cognitive or intellectual disabilities. Patients with FXS exhibit autism-like symptoms including social anxiety and avoidance, cognitive impairment, intellectual disability, anxiety and mood swings, attention deficit, irritability and increased risk for aggression.

Approximately 71,000 U.S. patients are believed to have FXS, based on FXS prevalence estimates of approximately 1 in 3,600 to 4,000 in males and of approximately 1 in 4,000 to 6,000 in females.

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