FAST’s Roadmap is focused on three elements supporting therapeutic approaches that have the potential to reverse the effects of the disorder in children, teens and adults.
Gene activation therapy, in AS referred to as “stop the stop”, works to activate the normally silent paternal gene to compensate for the underperforming or missing maternally inherited gene. Treatment is delivered via ASO, ATO, or CRISPR.
Casa Angelman developed a National Genetic Campaign to provide testing for children across Argentina and with assistance from FAST, will be able to bridge that gap for many Argentinian families.
Dr. Jiang will create a novel ~6MB full deletion Angelman syndrome mouse model. As we near a therapeutic aimed at getting a working copy of UBE3A into humans living with Angelman syndrome (AS), this work will contribute to the understanding of the other genes impacted in the largest population of individuals living with AS, those with a large deletion (>70% of individuals with AS), including numerous other genes around UBE3A and how these haploinsufficient genes may be contributing to symptoms of deletion positive individuals.
Dr. Duis used the ActiMyo device(s) in a clinical study to evaluate the tolerability and gait parameters in Angelman syndrome. This device was shown to be well tolerated and associated with various unique gait parameters when compared to neurotypical age-matched controls.