With $366,100 in grants from FRAXA Research Foundation, these investigators will study sensory abnormalities in fragile X mice and test the ability of a class of drugs, BK channel openers, to rescue these abnormalities.
Presynaptic Regulator of Neuronal Excitability as Therapeutic Target for Fragile X
Drs. Briault and Pichon conducted preclinical studies with selected experimental drugs which boost presynaptic regulators of neuronal excitability. Previous studies have shown that these compounds were able to improve behavior in fragile X mice.
They also attempted to correlate their findings in mice with sensory phenotypes seen in humans with fragile X. Abnormalities of a presynaptic regulator have been reported in some children with autism. This could lead to a novel therapeutic target for treating fragile X and perhaps also some forms of autism.
The team published initial results in 2014 demonstrating that the BKCa channel is a new therapeutic target for fragile X syndrome. An experimental drug, BMS-204352, rescued a broad spectrum of behavioral impairments (social, emotional and cognitive) in an animal model of fragile X.