Translating Molecular Advances in Fragile X Syndrome Into Therapy

Article Abstract Fragile X syndrome is an inherited disease with cognitive, behavioral, and neurologic manifestations, resulting from a single genetic mutation. A variety of treatments that target individual symptoms of fragile X syndrome are currently utilized with limited efficacy. Research in animal models has resulted in the development of potential novel pharmacologic treatments that target the underlying molecular defect in fragile X syndrome, rather than the resultant symptoms. This review describes recent advances in our understanding of the molecular basis of fragile X syndrome and summarizes the ongoing clinical research programs. J Clin Psychiatry 2014;75(4):e294-e307 © Copyright 2014 Physicians Postgraduate Press, Inc. Submitted: August 5, 2013; accepted January 16, 2014 (doi:10.4088/JCP.13r08714). Corresponding author: Baltazar Gomez-Mancilla, MD, PhD, Department of Neuroscience, Translational Medicine, Novartis Institutes of Biomedical Research, WSJ.210.25.5, CH-4056 Basel, Switzerland (baltazar.gomezmancilla@novartis.com).