Drug tackles Fragile X/autism symptoms in mice

While it isn't behind every diagnosed case of an autism or autistic spectrum disorder, experts point to Fragile X syndrome as the best known genetic cause. The single gene mutation is also behind a number of intellectual disabilities, with afflicted patients facing everything from anxiety and hyperactivity, to problems communicating and seizures.

In a major find, scientists at F. Hoffman-La Roche in Switzerland (Lothar Lindemann) and the Picower Institute for Learning at the Massachusetts Institute of Technology (Mark Bear) believe they've found a new compound--a potential drug--that reverses most Fragile X-related symptoms in adult mice. Details are published in the journal Neuron.

The finding comes during a busy time for autism research, and pharmaceutical companies globally are pursuing development of new drugs that target the Fragile X mutation. Roche ($RHHBY), for example, is developing such a drug, and the company is helping to lead a global research effort to find viable treatments for autism spectrum disorders. This effort includes a number of academic institutions and other pharmaceutical companies including Eli Lilly ($LLY), Pfizer ($PFE) and Janssen Pharmaceutica. San Diego's Afraxis is also trying to develop an experimental program to treat Fragile X.

The scientists in the latest study aren't developing their compound--CTEP--for humans. But they say the findings benefit the quest to treat human Fragile X syndrome all the same, because their discovery shows that large elements of Fragile X don't irreversibly disrupt brain development, leaving a window for the right drug to restore Fragile X function in people.

Researchers focused on finding a drug that inhibits mGlu5, a receptor subtype for the excitatory neurotransmitter glutamate, which scientists believe can help address major symptoms caused by Fragile X. CTEP, an mGlu5 inhibitor, helped reduce Fragile X symptoms in the adult mice including problems learning and remembering, as well as hearing sensitivities. The drug also improved many other Fragile X-related symptoms, the researchers said.

- here's the release
- read the journal abstract