Novartis drug shows early promise fragile X syndrome

Novartis this week announced results from a small clinical trial of a new drug which could help improve behaviors resulting from fragile X syndrome, an inherited genetic condition that can cause retardation and autism and affects one in 5,000 children. The study involved just a few dozen subjects, and only some of those responded to the therapy, but researchers are excited about any results for a condition that has been impossible to treat. "Just three years ago, I would have said that mental retardation is a disability needing rehab, not a disorder needing medication," National Institute of Mental Health Director Dr. Thomas Insel tells the New York Times. "Any positive results from clinical trials will be amazingly hopeful."

In 1991, a group of scientists identified the gene for fragile X. The syndrome is caused by the repetition of a certain gene sequence on the X chromosome. The repetition results in a failure of the body to express the FMR1 protein, which is required for normal neural development. After the genetic discovery, the medical world predicted that therapies for inherited retardation and autism would quickly follow. But as has often been the case, figuring out how a flawed gene causes disease and then finding an effective treatment was much more difficult than anticipated. 

The trial wasn't long enough to see whether Novartis' compound could improve subjects' intelligence. But the drug did improve such fragile X-associated behaviors as hyperactivity, repetitive motions, social withdrawal and inappropriate speech, according to the Times.

Dr. Mark Fishman, president of the Novartis Institutes for BioMedical Research, was quick to stress that the drug is years away from a shot at approval. "We have been reluctant to make this public because we still need to do more experiments, do them correctly and in a bigger way," Fishman tells the Times. "But our group feels pretty good about the data." Researchers and patient advocates hope the drug might also help patients with autism not resulting from fragile X.

- read the New York Times article

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