Aspartylglucosaminuria (AGU) is a rare genetic lysosomal disorder that slows developmental progress in childhood. In primary and middle school, children with AGU are often labeled as having autism spectrum disorder or general developmental delay. Unlike typical autism, however, AGU causes additional health problems and is progressively degenerative, with symptoms that worsen over time. 

Fewer than 300 children and young adults worldwide live with AGU today. They are often noted for their kindness, honesty, and eagerness to help—qualities that shine even as the disease gradually diminishes their abilities and shortens their lives.  

Since AGU was first described in the 1960s, researchers have mapped its genetic cause and conducted a lot of research, but an effective treatment has remained out of reach. For over a decade, we’ve been dedicated to changing that—advancing a gene-therapy program aimed at transforming this hard-won knowledge into the first life-altering therapy for the entire AGU community.