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"You look at anybody that's got Fragile X and you know they're there. It's like you ask them something and they kind of get lost in their thought," Britt says. "You still have people in this world that, when they see an adult that looks normal ... but they still have very childlike behaviors and sometimes very childlike responses, they poke fun."
What goes wrong in Fragile X? That mutated gene on the X chromosome shuts off production of a brain protein called FMRP. Boys are usually more affected than girls, because they have only one X chromosome while girls have two.
FMRP puts the brakes on other brain proteins. Among other things, its absence allows too much activity by that mGluR5 receptor. Some drug companies already had been exploring drugs to tamp down mGluR5 because it may play a role in anxiety, too.
Now in the Fragile X pipeline:
-New Jersey-based Hoffman-La Roche Ltd. just began a Phase II trial at Emory, UC-Davis and three other hospitals comparing its candidate to a dummy pill in 60 adults with Fragile X.
-Hagerman says results are due soon from Swiss drug maker Novartis AG's similar study in Europe.
-Massachusetts-based Seaside Therapeutics LLC -- co-founded by Massachusetts Institute of Technology's Dr. Mark Bear, who made the mGluR5 link -- is testing one drug thought to indirectly affect mGluR5 and will open trials of a more targeted one soon.
What's the evidence? The approach worked in mice bred with the Fragile X gene. More startling, when Hagerman gave a single dose of one experimental drug to 12 patients, she measured brain or behavior changes that lasted until the dose wore off in half of them.
Eye contact and language improved, Hagerman recalls; one young man even asked the nurse for a date. "That got us pretty jazzed."
Lauran Neergaard covers health and medical issues for The Associated Press in Washington.
Copyright 2010 The Associated Press. All rights reserved. This material may not be published, broadcast, rewritten or redistributed.
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