The trials are taking place at Rush and the University of California, Davis. The principal investigators in the study are Dr. Elizabeth Berry-Kravis, a pediatric neurologist at Rush-Presbyterian St. Luke's Medical Center; and Dr. Randi J. Hagerman, medical director, M.I.N.D. Institute, School of Medicine, University of California, Davis. Dr. Edwin Cook an expert in autism at the University of Chicago contributed to the development of the clinical protocol.
"Currently there are no therapies on the market to treat cognitive deficits associated with fragile X syndrome or autism," said Berry-Kravis. "However, in the past five years, basic research has led to an improved understanding of these diseases and a number of scientists have suggested that the use of a drug to enhance glutamate transmission could be beneficial." The study will evaluate CX516 (Ampalex), an Ampakine compound, which has been proven to enhance glutamate transmission in the brain through activation of AMPA receptors. Ampalex is made by Cortex Pharmaceuticals which will provide the study medication. The research is funded by the FRAXA Research Foundation.
Fragile X is an inherited disorder and is the most common cause of inherited mental retardation, affecting 1 in 2,000 males and 1 and 4,000 females. Symptoms of fragile X syndrome include mental impairment ranging from learning disabilities to mental retardation, attention deficit and hyperactivity, anxiety and unstable mood, autistic-like behaviors, long face, large ears, flat feet, and hyperextensible joints, especially fingers. "Once you have a patient with fragile X syndrome, that's a big red flag because that means the mutation has been in the family in a silent form for years," s
Contact: John Pontarelli
Rush University Medical Center