Posted on: 20 September 2019, source: UConn Today
At the Association for Glycogen Storage Disease’s 41st Annual Conference, Dr. David Weinstein of UConn School of Medicine and Connecticut Children’s presented his groundbreaking, one-year clinical trial results for the novel gene therapy treatment for glycogen storage disease (GSD). The rare and deadly genetic liver disorder, GSD type Ia, affects children from infancy through adulthood, causing dangerously low blood sugar levels and constant dependence on glucose consumption in the form of cornstarch every few hours for survival. If a cornstarch dose is missed, the disease can lead to seizures and even death. Weinstein, whose team first administered the investigational gene therapy at UConn John Dempsey Hospital in Farmington, Connecticut, on July 24, 2018, calls the results “remarkable.”