World's first gene therapy for glycogen storage disease produces remarkable results

ScienceDaily | 9/20/2019 | Staff
lukealukea (Posted by) Level 4
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."

Year - Patient - Jerrod - Watts - GSD

One year after patient Jerrod Watts first received the GSD vaccine during a 30-minute infusion, he is completely off of cornstarch. In addition to totally stopping daily cornstarch consumption, Watts has experienced normal regulation of his blood glucose levels, weight loss, increased muscle strength, and marked improvement in his energy.

"The clinical trial is going better than expected. The therapy is transforming patient lives," says Weinstein. "We have seen all of the patients wean their therapy with some already discontinuing treatment. Missed cornstarch doses no longer are resulting in hypoglycemia, which previously could have been life threatening."

Weinstein - Trial - Lead - Investigator - Endocrinologist-scientist

Weinstein, the clinical trial's lead investigator, is pediatric endocrinologist-scientist who cares for more than 700 GSD patients from 51 countries as director of the Glycogen Storage Disease Program at Connecticut Children's and UConn Health -- the largest center in the world for the care and treatment of this condition.

The clinical trial, conducted in conjunction with the biopharmaceutical company Ultragenyx, originally set out to simply test the safety and dosage of the gene therapy for three patients with GSD Type Ia.

Gene - Therapy - Works - Copy - Gene

The gene therapy works by delivering a new copy of a gene to the liver via a naturally occurring virus. Administered through the patient's bloodstream, the new copy replaces deficient sugar enzymes caused by the disease and jump starts the body's glucose control.

Both Weinstein and Watts were surprised by Watts'...
(Excerpt) Read more at: ScienceDaily
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