A preliminary clinical trial to assess a drug to treat fragile X syndrome has been launched with funding from the National Institute of Mental Health, the Eunice Kennedy Shriver National Institute of Child Health and Human Development, and the National Institute of Neurological Disorders and Stroke.
Previous studies had revealed that individuals with fragile X syndrome have mutations in the fragile X mental retardation gene (FMR1) that inactivate the gene. This, in turn, leads to excessive activity of the metabotropic glutamate receptor 5 (mGluR5). A reduction of this signaling in animal models reverses some of the symptoms associated with the syndrome (Dölen G and Bear MF. J Physiol. 2008;586:1503-1508). The pilot study will assess safety and tolerability of an mGluR5 antagonist, STX107, in healthy adult volunteers.
Kuehn BM. Fragile X Therapy Probed. JAMA. 2009;302(24):2644. doi:10.1001/jama.2009.1848