When Colin Abernethy was told that his daughter Rosalyn had Fragile X, it was a relief. From an early age Rosalyn experienced difficulties in reaching certain development milestones, and with this diagnosis, it opened the door to finding some solutions for her. Since then, the Abernathys have been highly involved in Canadian and American Fragile X organizations, and through their pursuit of further supports for their daughter, discovered a clinical trial happening here in Edmonton Alberta.
Fragile X syndrome is a single gene disorder associated with developing cognition as well as daily functioning activities. Dr. Francois Bolduc has been studying the disorder for over 20 years, and he leads the study that Rosalyn is currently participating in. “There are kids that take a long time to get diagnosed because their frontline worker just don’t know about Fragile X.” says Dr. Bolduc. “There’s a lot of awareness that we need to work on.”
This latest study focuses on the use of Metformin, a highly tested and proven diabetes drug that works by inhibiting protein synthesis. Initially tested on fruit flies with Fragile X, it showed that by blocking some of the brain’s protein synthesis, it actually helped to improve memory. This revelation provided the grounds to begin the trial with human participants. Dr. Bolduc states that “The main goal is not to change cognition, but to work on behaviour and mental health which are big drivers of independence.” Language is the primary outcome measure that the study is focussing on, but it also looks at other bio markers, which are objective measures of the brain’s ability to function. Monitoring participants with an EEG cap and eye tracking apparatus can capture how a person responds when they are learning a new task or if there are new stimulations. All of this information helps to monitor improvements in the participants mental capabilities.
Thanks to the work of Dr. Bolduc and his team and the help of participants like Rosalyn, solutions and aids are being discovered and refined that will serve to raise awareness about the condition as well as help those who live with Fragile X.