Memory Loss Drug Appears To Help People With The Genetic Disease Fragile X

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An experimental drug appears to help people with a genetic disorder called Fragile X syndrome. Fragile X is the most common inherited cause of intellectual disabilities and autism. NPR's Jon Hamilton reports that a drug intended for Alzheimer's patients appears to ease some of the symptoms.

JON HAMILTON, BYLINE: Alzheimer's and Fragile X both affect a substance that helps transmit messages inside cells. A small company called Tetra Therapeutics have been working on an Alzheimer's drug that manipulates this substance. Mark Gurney is Tetra's CEO.

MARK GURNEY: So we thought there was a strong possibility that this drug might be effective in Fragile X.

HAMILTON: Gurney contacted a foundation that funds research on the disorder. The foundation, called FRAXA, arranged to have the Tetra drug tested in animals. Then, it agreed to fund a study in 30 adult males with Fragile X. And Gurney says after 12 weeks on the drug, their language and verbal communication had improved significantly.

GURNEY: What we found in the clinical trial was a five-point change in the cognition score on the toolbox. And potentially, that's up to a 10-point change in IQ.

HAMILTON: The results appear in the journal Nature Medicine, and Gurney says they'll need to be confirmed. But he says they suggest it will be possible to greatly improve the lives of some people with severe intellectual disabilities.

GURNEY: People with Fragile X with an IQ of 40 are typically living with their parents or in an institutional setting. With an IQ of 50, in some cases, they're able to ride the bus. They're able to hold a job with some assistance, and they're able to function better in their community.

HAMILTON: The apparent success comes seven years after two other promising drugs for Fragile X did not pan out when tested in people. Katie Clapp is a founder of FRAXA, which has been funding research on Fragile X since 1994.

KATIE CLAPP: It makes up for some of the devastation of years ago when we had such high-profile failures.

HAMILTON: Clapp says the results also give her new hope for her son, Andy, who is 31 and has Fragile X syndrome.

CLAPP: The incredible thing about the results of this trial is that they were able to show that learning improved.

HAMILTON: Clapp's husband, Dr. Michael Tranfaglia, is a scientist and also a founder of FRAXA. He says in previous studies, drugs that produced dramatic results in mice failed to act the same way in people. This drug, he says, is different.

MICHAEL TRANFAGLIA: We saw an almost perfect translation of these findings that we saw in the mice into the human condition.

HAMILTON: Tranfaglia says one earlier drug may have failed because people developed a tolerance to it.

TRANFAGLIA: The one thing that we know with this drug is that the longer you're on it, the better you do. It just keeps on working better and better.

HAMILTON: The new drug will still have to prove itself in a much larger study before it can be considered by the Food and Drug Administration, so Mark Bear of MIT says it's too soon to celebrate.

MARK BEAR: This study is certainly not definitive, but it's encouraging.

HAMILTON: Bear says the results do make him more confident than ever that new drugs will arrive to help people with Fragile X. And he says drugs that work in adults are likely to be even more effective for children with the disorder.

BEAR: Fragile X can be conceptualized as a derailment of normal brain maturation. So the earlier we can get in there and correct the course of development, the more dramatic will be the improvement.

HAMILTON: Tetra Therapeutics is collaborating with the Japanese drug company Shionogi to conduct a large study of the new drug. That study should begin this summer. Jon Hamilton, NPR News.

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