for GSDIa

DTX401: Gene therapy for the potential treatment of glycogen storage disease type Ia (GSDIa)

Program overview

Stage: Phase 3
Disease: GSDIa
Prevalence: 6,000 people in our territories
Disease Mechanism: Inability to maintain normal glucose levels
Symptoms: Severe hypoglycemia, seizures, hepatomegaly, growth problems
Treatment Modality: AAV8 gene therapy
Treatment Mechanism: Deliver transgene to produce normally functioning glucose-6-phosphatase

GSDIa: Disorder of energy metabolism leading to inability to maintain normal glucose levels

GSDIa is caused by mutations in the gene for the enzyme glucose-6-phosphatase (G6Pase). As a result, the body is unable to breakdown glycogen to produce glucose during times of fasting. GSDIa is one type of glycogen storage disorder with the enzymatic deficiency causing the accumulation of glycogen in the liver and kidney. Without the daily use of oral glucose replacement therapy (cornstarch), individuals with GSDIa become severely hypoglycemic, which can be life-threatening. They also can develop severe lactic acidosis and progress to renal failure. No pharmacologic therapies are approved for GSDIa, which affects an estimated 6,000 people in our territories.

Evaluating DTX401 to establish normal glucose metabolism and reduce or eliminate the need for cornstarch to maintain normal glucose levels

DTX401 is an investigational AAV8 gene therapy designed to deliver stable expression and activity of G6Pase-α using a single intravenous infusion. Long term Phase 1/2 data demonstrate an acceptable safety profile and durability of response. All treated patients have experienced stable or improved glucose control while tapering or discontinuing oral glucose replacement therapy with cornstarch after receiving DTX401. The Phase 3 GlucoGene study is underway to evaluate the ability of DTX401 to reduce the use of cornstarch while maintaining or improving glucose control as well as the therapy’s impact on patients’ quality of life.

DTX401 was granted Orphan Drug Designation in the United States, EU and United Kingdom, and Regenerative Medicine Advanced Therapy (RMAT) designation and Fast Track designation in the United States. DTX401 was accepted into the EMA’s Priority Medicines program (PRIME), enabling more frequent interactions with the EMA and the potential for an accelerated approval.

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