Experimental Compound FRAX486 Reverses Signs of Fragile X in Mice

With $81,000 in funding from FRAXA Research Foundation from 2005-2006, Dr. Susumu Tonegawa and his team at MIT studied the enzyme PAK to determine how it could be used for a treatment target. Results published.

Susumu Tonegawa, PhD, at MIT
$81,000 Grant
Sususmu Tonegawa, PhD
Principal Investigator

Mansuo Hayashi, PhD
FRAXA Postdoctoral Fellow


Massachusetts Institute for Technology 
2005-2006 FRAXA Research Grant
$81,000 over 2 Years

FRAXA funded studies by Nobel Laureate, Susumu Tonegawa, investigating how the enzyme PAK regulates the shape and function of dendritic spines of neurons. Dr. Tonegawa’s team demonstrated that genetic reduction of PAK could rescue most signs of Fragile X in mice engineered to mimic the disease.

This essential proof of concept work was also the basis for a company, Afraxis. No specific PAK inhibitors existed at that time, so Dr. Tonegawa founded Afraxis to find useful drugs that inhibit PAK.

Results Published:

Rescue of Fragile X syndrome phenotypes in Fmr1 KO mice by the small-molecule PAK inhibitor FRAX486

This paper, published in the Proceedings of the National Academy of Science, showed that FRAX486, an experimental compound developed by Afraxis, inhibits all the PAKs in the brain. It also reversed most of the important Fragile X animal model phenotypes with a single dose!

Genentech currently owns the rights to FRAX486 and related compounds developed by Afraxis.

Susumu Tonegawa, PhD, at MIT

Explore Current Fragile X Research

FRAXA-funded researchers around the world are leading the way towards effective treatments and ultimately a cure.

Share via
Copy link