Development of outcome measures for future clinical trials in fragile X syndrome

New information is becoming available regarding the neurobiological mechanism of mental retardation in fragile X syndrome, FXS. This has resulted in proposals for syndrome-specific treatments to compensate the neural mechanisms made abnormal by the absence of the fragile X protein, FMRP. Some of these treatments are being developed, but there is a critical need for well-validated outcome measures to demonstrate drug effect in the fragile X population. This pilot project for outcome measure development will test the validity, in an FXS population, of a number of cognitive tasks designed to assess specific areas of weakness in FXS that might be expected to show rapid improvement during the timeframe of a phase II clinical trial lasting several weeks to several months. The project will also assess the usefulness and reproducibility of a new biomarker for a pathway shown to be abnormal in the absence of FMRP, for determining biological effectiveness of treatment in future clinical trials.

Eligible participants must be diagnosed with fragile X syndrome. For more information about eligibility criteria, contact the number provided on this page.