New Drug Improves Cognitive Function in Adult Males with Fragile X Syndrome

Exciting Study Shows Cognition and Behavior Gains are Possible in Adulthood 

Fragile X syndrome is recognized as a common genetic cause of autism and intellectual disability. Advancements made in treating fragile X also have implications for treating autism. This is why a recently published study in Nature Medicine has shown promise for the autism community. A new drug that prevents an enzyme from breaking down a key molecule involved in learning and memory showed improvements in cognitive function and behavior of adult men with fragile X syndrome. This small phase 2 study included 30 men with the disorder and was conducted over 24 weeks. The researchers involved in the study randomly assigned each participant to one of two treatment sequences: 12 weeks on the drug followed by 12 weeks on a placebo, or 12 weeks on a placebo followed by 12 weeks on the drug. The research team evaluated the study’s subjects during week 6 and again at week 12 of each trial sequence. Parents and caregivers were also recruited to rate changes in the men’s language, daily function, and anxiety. After processing all evaluations, which included utilizing cognitive assessments from the NIH Toolbox, the study’s authors determined that the new drug provided significant improvement in language, daily function, and cognition. Typically, improvements in cognition have not been thought possible after childhood.  However, the results of this study challenges that idea, giving families with adults with fragile X or autism a reason to be hopeful. In the report, the researchers mentioned that cognition is key to independence for special needs adults. They hope that their new drug will lead to better daily-function outcomes for these individuals. A phase 3 trial is planned later this year which will include men, adolescent boys, women, and girls with fragile X. 

Original Article

Original Study Abstract

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