Seaside Vice President of Research Aileen Healy says the causes many autism cases are not known, but that patients with fragile X syndrome have a high prevalence of autism.
Wednesday, September 19, 2012
Seaside Therapeutics Inc. in Cambridge Wednesday published its latest research results for its disease-modifying drug candidate STX209 that shows promise as a treatment for fragile X syndrome and autism, the most prevalent form of intellectual disability.
In two papers published online today in Science Translational Medicine, STX209, also called arbaclofen, shows potential for modifying the disease known as fragile X syndrome (FXS), the most common known genetic cause for autism, resulting in impaired social function, cognition and speech, as well as attention deficits and low functional independence. To date, the only treatment for FXS and autism has been anti-psychotic drugs which calm the patient but do not address the underlying disease nor the social and communication problems patients experience with FXS.
Fragile X syndrome is caused by the mutation of a single gene known as FMR1, which codes for a protein called fragile X mental retardation protein (FMRP) that is necessary for normal brain development. Without FMRP, patients exhibit several changes in their brains that underlie the cognitive and behavioral deficits associated with FXS.
In a written statement, Dr. Elizabeth Berry-Kravis, a professor of pediatrics, neurology, and biochemistry at Rush University Medical Center in Chicago and the lead author of one of the papers said there are currently no FDA approved therapeutics that address the core symptoms of fragile X syndrome, leaving patients and their caregivers with limited treatment options. We are very excited about the clinically meaningful improvements in social impairment observed in patients receiving STX209.
In fragile X patients where theres a high incidence of autism, were seeing a signal in social avoidance, Seaside Vice President of Research Aileen Healy told Mass High Tech. They try to withdraw to cope with over-stimulation. These patients are now responding to treatment by having interactions, talking more, spending more time with their families. One child could actually sit in a room and listen to their family sing Happy Birthday where they would just retreat before.
Healy stresses that the causes for the majority of autism cases are not known, but that patients with fragile X syndrome -- the most inheritable form of intellectual disability -- have a high prevalence of autism.
We know what causes autism in this case, its the silencing of this fragile X gene, Healy said, so we use that as a window to try to understand autism. Were looking at social avoidance in fragile X right now; well test that in patients with autism, but who do not have the fragile X mutation.
As many half the patients with fragile X syndrome are autistic, while just 2-5 percent of autistic patients have the fragile X mutation, according to Healy. Seasides STX209 is currently in a Phase 3 study which, if successful, within a few years could result in the first disease-modifying treatment for FXS and autism.
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Seaside Therapeutics research sees possible autism treatment