Autism Research: A Breath of Fresh Air

With all the words that are spilled and all the debates that rage over autism cause, cure, treatment and research there is little discussion, let alone effort, to actually find and prove new treatments and cures for autism disorders. It is a breath of fresh air to learn of some autism research that is actually being conducted with a view to HELPING autistic persons FUNCTION better. Such news is seldom heard.

One of the funders of the study is Autism Speaks which often takes heat from all sides in the world's autism communities. Well done Autism Speaks and other funding agencies involved in this effort. Hopefully more research aimed at actually helping autistic persons function better will be conducted in the near future.

Jill Cornfield at Autism Vox has highlighted research by Seaside Therapeutics LLC of a drug that may help autistic persons communicate better. The Seaside Therapeutics LLC press release indicates that it has received $30 million dollars in funding to conduct the study, which builds on the work of Seaside scientific founder Mark Bear of MIT, and explains the theory and aim of the study:

Historically, drug discovery in disorders of brain development has been unproductive largely due to the lack of mechanistic understanding of these disorders, as well as the absence of predictive animal models. Seaside Therapeutics is changing this paradigm through scientific exploration that focuses on identifying the fundamental pathophysiology of brain development disorders and applying this knowledge to develop targeted therapeutics. Recent discoveries by the Company's scientific founder, Mark Bear, Ph.D., Howard Hughes Medical Institute Investigator and Professor of Neuroscience at M.I.T., have revealed a molecular pathway, the mGluR5 signaling cascade, that is disrupted in a specific disorder of brain development - Fragile X Syndrome. With this knowledge, further research has provided insights for developing novel medications to normalize the function of this pathway, which Seaside believes may extend beyond Fragile X into a number of other developmental disorders, including autism.

STX209 is a selective gamma-amino butyric acid type B (GABA-B) receptor agonist. STX209 inhibits glutamate signaling in the brain and should thereby indirectly inhibit the excessive metabotropic glutamate receptor (mGluR) mediated protein synthesis implicated in Fragile X Syndrome. Preclinical studies using STX209 and other prototypic GABA agonists have demonstrated efficacy in animal models of Fragile X, suggesting that GABA agonists may provide significant benefits to people with Fragile X Syndrome and other disorders of brain development. STX209 entered a Phase 2 clinical study in adults and adolescents with Fragile X in December 2008 and a second trial in adolescents with autism spectrum disorders was initiated in March 2009. Seaside intends to expand both studies to include children as young as 6 years old during 2009. Data from both Phase 2 studies is expected in the first quarter of 2010.

STX107 is a highly potent, selective mGluR5 antagonist that was licensed from Merck & Company, Inc. STX107 was selected for development based on Dr. Bear's discovery of the connection between mGluR5 signaling and Fragile X Syndrome. Specifically, the evidence suggests that most, if not all, of the neurological and psychiatric consequences of Fragile X can be accounted for by exaggerated signaling through mGluR5 receptors. Preclinical research indicates that normalizing this exaggerated mGluR5 signaling reverses most of the anatomic, behavioral and synaptic abnormalities associated with Fragile X. By directly inhibiting exaggerated mGluR5 signaling, STX107 provides a compelling opportunity to treat core symptoms and disabilities of Fragile X Syndrome, autism and other developmental disorders. Seaside has been awarded translational research grants to support the development of STX107 from the National Institute of Mental Health, the National Institute of Child Health and Human Development, the National Institute of Neurological Disorders and Stroke, Autism Speaks, FRAXA and the Best Pharmaceuticals for Children Act. STX107 is expected to enter Phase 1 clinical studies in healthy volunteers in October 2009.

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Is Fragile X the Treatable Type of Autism?

In The Fragile X Factor TIME in partnership with CNN examines Fragile X in the family of Cari and Andrew Wheeler of Madera Ranchos, California including son Max, 7 , who is mildly autistic and mildly retarded. In addition to Max his mother is experiencing premature menopause and his grandfather is suffering from neurological decline. The conditions of all three are impacted by the Fragile X syndrome and the defective X chromosome gene they carry. All three are featured and their common Fragile X syndrome described.

The article also focuses on fenobam, a potential drug treatment for FXS and other types of autism. Pediatrician Randi Hagerman, medical director of the MIND Institute, and a team at Chicago's Rush University Medical Center have begun trials with fenobam. Neuroscientist Mark Bear of MIT is expected to begin trials with two other drugs in 2008. Hagerman is particularly optimistic:

"We're looking at a medication to reverse the retardation and I think we can achieve it."

Hagerman's husband Paul also studies Fragile X and urges parents with an autistic child to consider testing for Fragile X. In his opinion autism caused by Fragile X will be known as the "treatable type".

If the drugs fulfil their potential and are indeed found to be an effective treatment for Fragile X related autism some neurodiversity oriented parents may have to reconsider their "Autism is Beautiful" hostility toward autism cures. It is one thing to oppose a hypothetical treatment or cure. It would be something altogether different for parents to refuse actual proven treatments that could cure their autistic children and give them a chance at a richer life.

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