After a bit of a delay to provide translations in multiple languages, we’re finally launching a patient registry survey to systematically document the AGS community’s experiences with what we refer to as “triggers” and “flares”. AGS is often described in outdated literature as involving a single but severe neurological regression. However, the patient community knows well that many with AGS suffer recurring periods of heightened disease activity. Unsurprisingly, these periods (or “flares”) appear to be the result of immune stimulating factors (or “triggers”); but the characteristics and severity of these flares and triggers have been mostly passed around as community anecdotes. By systematically collecting this information through our registry, we will achieve two primary goals:
Characterize disease related stimulus and risk factors for AGS families.
Identify distinct phenotypes, perhaps related to genotype, AGS Scale score, or frequency + severity of relapse.
With this new survey and previously collected data, we hope to begin to answer everyone’s first question, “what will happen to my child?” While this will be our longest survey to date, we hope that you’ll see the benefit that all of this information will provide to you and others.