FRAGILE X

Drug shows promise on fragile X syndrome, a leading cause of retardation, autism

08:33 AM CDT on Friday, April 30, 2010

Gardiner Harris, The New York Times

An experimental drug succeeded in a small clinical trial in bringing about what researchers called substantial improvements in the behaviors associated with retardation and autism in people with fragile X syndrome, the most common inherited cause of these mental disabilities.

The surprising results, disclosed this week by Novartis, the Swiss pharmaceutical giant that makes the drug, grew out of three decades of painstaking genetic research, leaps in the understanding of how the brain works, the advocacy of families who refused to give up and a chance meeting between two scientists who mistakenly showed up at the same conference.

"Just three years ago, I would have said that mental retardation is a disability needing rehab, not a disorder needing medication," said Dr. Thomas Insel, director of the National Institute of Mental Health, who was told of the Novartis trial results.

"Any positive results from clinical trials will be amazingly hopeful."

Dr. Mark Fishman, president of the Novartis Institutes for BioMedical Research, cautioned against too much optimism.

The trial involved only a few dozen patients, only some of whom benefited from treatment. The drug is likely to be years away from being commercially available and could fail in further clinical trials, he said.

But if authenticated in further, larger trials, the results could also become a landmark in autism research, since scientists speculated that the drug may help some patients with autism not caused by fragile X.

One child in 5,000 is born with fragile X syndrome, with mental effects ranging from mild learning disabilities to retardation so profound that sufferers do not speak, and physical effects that include elongated faces, prominent jaws, big ears and enlarged testes. It mostly affects boys.

The gene for fragile X was discovered in 1991. Work since then has found that fragile X patients seem to experience an overload of unchecked synaptic noise – synapses being the junctions between brain neurons.

The Novartis drug and others like it are intended to lower the volume of this noise so memory formation and high-level thinking can take place, allowing children to develop normally.

Gardiner Harris,

The New York Times