080210xf's Blog

L'X fragile sera vaincu | Fragile X will be conquered

Study points to markers for Novartis Fragile X drug

Reuters UK | Thu Jan 6, 2011 12:30am IST

* Early stage trial in 30 patients shows drug helps some

* Those with “fully methylated” gene seemed to respond best

* Novartis now taking drug into larger mid-stage trials

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By Kate Kelland

LONDON, Jan 5 (Reuters) – A “fingerprint” on a key gene in certain people with a mental retardation condition called Fragile X syndrome may act as a marker for patients who could benefit from an experimental Novartis (NOVN.VX) drug.

The drug, called AFQ056, is designed to reduce the activity of a protein called mGluR5 in the brain and data published on Wednesday from an early trial of 30 Fragile X patients showed that it helped improve symptoms in some, but not all of them.

Researchers who led the study said an analysis of those Fragile X patients who did respond showed they have a kind of “fingerprint” in their DNA that marks them out. They now plan larger trials to see if the findings can be confirmed.

“These are very early-stage data… from a study with a small sample size and we are in the process of doing further studies to see if we can validate these markers,” said Baltazar Gomez-Mancilla of the Novartis Institutes for Biomedical Research, whose work was published in the Science Translational Medicine journal on Wednesday.

“This could open a new way to look at drug response.”

Fragile X is the most common cause of inherited mental retardation and affects one in every 5,000 children worldwide.

It is caused by a mutation in a single gene, known as Fragile X Mental Retardation-1, or FMR1, where part of the gene is made longer than normal by additional repeats of DNA sequence, the researchers explained in their study.

*Article de deux pages / 2 pages article

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