January 11, 2011

X Marks the Spot

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Reviewed by: 
Joseph V. Madia, MD By:

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Potential new drug for Fragile X patients

(dailyRx News) A new drug is being tested for use in people with Fragile X syndrome, in which patients exhibit impaired behavioral and mental capabilities, very similar to autism.

Fragile X syndrome is the leading single-gene cause of autism or autistic-like behavior, affecting 1 in 4000 males and 1 in 6000 females. Characteristics include impairments in learning, behavior and speech development. However, Fragile X and autism are two different things.

Autism affects 1 in every 110 births, according to the Center for Disease Control, and an estimated 1.5 million people in the United States alone. It is a developmental disorder that appears before the age of three.

The first drug to potentially treat "Fragile X" is currently being developed, one that will target the cause of the syndrome instead of the symptoms.

The drug, named AFQ056, has been tested in an early trial of 30 patients. The best results were achieved in people with a certain marker in their DNA that could determine who is in need of treatment.

AFQ056 targets a receptor in brain cells that are involved in several processes, including those vital to learning and memory. Fragile X consists of a single mutated gene that blocks an important protein uptake, resulting in abnormal brain cell connections and impaired functioning.

Initial trials have been short and longer treatment is necessary to fully assess the new drug's effectiveness. Most importantly, it has proven to be safe when used in patients and a bigger study of 160 patients will be conducted soon.

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Reviewed by: 
Joseph V. Madia, MD
Review Date: 
January 11, 2011

Last Updated:
July 5, 2013