Development of a Novel GABA-A Agonist in Fragile X Syndrome
Tori Schaefer, PhD
Principal Investigator
Craig Erickson, PhD
Consultant
Cincinnati Children’s Hospital
Cincinnati, OH
2013 Grant Funding: $21,000
Summary
Dr. Tori Schaefer will analyze an investigational new compound that targets the GABA-A receptor. A clinical trial of the compound will follow led by Dr. Craig Erickson at Cincinnati Children’s Hospital.
The Results
Results: Clinical Trial Launched
The Science
Of the many genes known to be regulated by FMRP, the gamma-aminobutyric acid receptor A (GABA-A), is gaining attention as a potential target for the treatment of Fragile X syndrome. Mounting evidence suggests decreased expression and functioning of GABA-A is involved in the pathophysiology of Fragile X syndrome. Non-selective GABA-A agonism in animal models of Fragile X syndrome has been associated with normalization of morphological features, GABA-A expression, and behavior. However, the clinical use of these agents in Fragile X is associated with unwanted side-effects, such as sedation, dulling of cognition, and occasional paradoxical agitation, which limits their use.
Given the limitations in available GABA-A-based treatment of FXS, this group plans to investigate a novel selective GABA-A agonist in a mouse model of FXS. This agent has the potential to relieve many symptoms of Fragile X without the unwanted side effects.
