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Drug Therapies Show Success for Fragile X Syndrome

By Stacy W. Kish on September 27, 2012


Background: Fragile X syndrome (FXS) is a common genetic cause of intellectual disability and autism. FXS individuals show a constellation of symptoms including intellectual disability, anxiety, epilepsy, attention deficits, hyperactivity and autistic behavior. FXS results from a silenced (turned off) FMR1 gene, which is associated with abnormal neural connections that impair synaptic connectivity.


What’s new: Researchers have conducted rigorous clinical trials using a drug-based therapy that targets a neurobiological pathway known to be altered in FXS. They have examined the effectiveness of STX209, a γ-aminobutyric acid type B (BAGAB) receptor agonist, in a mouse model and human trials. The therapy restored normal neurological connections leading to a reduction in protein synthesis, seizures, and repetitive behaviors in Fmr1-knockout mice in the study; this treatment showed little to no effect on the control mice in the study.


A concurrent study examined the effect of the same therapy on 63 subjects ranging from 6 to 39 years of age. The therapy improved social anxiety, as defined by the Aberrant Behavior Checklist-Social Avoidance scale. The therapy did not show significant success at treating aggression, self-injury, or irritability, as defined by the Aberrant Behavior Checklist (ABC-1).


Why it’s important: The new drug therapies show promise by targeting Fragile X syndrome at the molecular level by balancing neurotransmission. This intervention improved aspects of social behavior in Fragile X individuals with important consequences for autism

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