What is Glycogen Storage Disease Type 1a (GSD1a)?

GSD Type Ia (GSD1a) is the most common genetically inherited glycogen storage disease. Individuals with GSDIa have a defective gene for the enzyme glucose-6-phosphatase, resulting in the inability to regulate blood sugar (glucose). Hypoglycemia in GSD1a patients can be life-threatening, while the accumulation of the complex sugar glycogen in certain organs and tissues can impair the ability of these tissues to function normally.

An estimated 6,000 or more patients are affected by GSD1a worldwide.1 Generally, affected children must be fed every one to four hours in order to maintain blood glucose at an appropriate level. Most children have a gastric or naso-gastric tube in place for overnight feeding.

If chronically untreated, patients develop severe lactic acidosis, can progress to renal failure, and die in infancy or childhood. Although there has been recent progress in the treatment of GSDIa, including a new dietary product approved by US FDA, there are no drug therapies approved for this disease.

GSD1a is an area of significant unmet medical need, where a gene therapy approach has the potential to replace the defective gene and significantly improve treatment for children. An AAV gene therapy approach has shown in preclinical in vivo models to produce stable gene expression, enhanced survival, and prevention of hypoglycemia.

1 The Children’s Fund for GSD Research