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Von Gierke Disease (GSD1)

Research & Development

The world’s first gene therapy trial in Glycogen Storage Disease.

First ever gene therapy for GSD

On 24 July 2018 a patient received the first ever gene therapy for glycogen storage disease (GSD). It was developed by the team led by Dr. David Weinstein, director of the Glycogen Storage Disease Program at Connecticut Children’s Medical Center and UConn Health.

Jerrod has lived with the consequences of his rare and potentially deadly genetic liver disorder, GSD1a, since birth and his diagnosis at 9 months old. As part of a new clinical trial Jerrod received the novel gene therapy via an intravenous infusion.

Latest news of success

The first three patients to recieve the therapy in the trial improved more than had been expected.

The third cohort of patients have now been treated and the researchers reported: “In the confirmatory third cohort, continuous glucose monitoring showed early transgene expression and enabled faster and more accurate reductions in cornstarch compared with prior cohorts.”

Video by University of Connecticut.