‘Better outcome measures needed for clinical trials for FXS’

Assessments not keeping up with clinical trial advances

NEW YORK, June 19: A group of researchers from several institutions in the USA, including Johns Hopkins Medicine, reports that its review of 22 clinical trials of fragile X syndrome (FXS) suggests the need for a wider use of newer and improved treatment outcome measurement tools for this and other several neurodevelopmental disorders. FXS is the most common inherited form of intellectual disability and the most common form of autism associated with a single gene mutation.

A report of the findings, published in the Journal of Neurodevelopmental Disorders on June 12, indicates the need for more sensitive and objective instruments to better capture global or symptom-specific benefits of drugs and other interventions.

“In an attempt to keep up with recent major discoveries in animal models of fragile X syndrome, and other developments, clinical studies in humans have unfolded on a fast track along an uncharted synapses, the connections between nerve cells. The lack of FMRP, then, results in disrupted nervous system function, expressed as a wide range of complex, multilayered neurobehavioral symptoms.

FXS has been one of the neurodevelopmental disorders with the most rapid research progress, particularly in terms of testing new treatments in animal models. Treatments for FXS require a broad range of interventions (i.e., speech-language, occupational, behavioral) and pharmacological treatments.

The research team conducted an extensive database search and systematically reviewed 22 double-blind mostly fragile X-specific controlled clinical trials from 2008 to 2015. The team sought to update recommendations that it published in 2013.

The Working Groups identified outcome measures in three areas that cover the broad range of FXS symptoms: 1) cognition;