Glycogen Storage Disease - Healing Genes

Glycogen Storage Disease

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Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa)

A Phase 1/2, Open-Label Safety and Dose-Finding Study of Adeno-Associated Virus (AAV) Serotype 8 (AAV8)-Mediated Gene Transfer of Glucose-6- Phosphatase (G6Pase) in Adults With Glycogen Storage Disease Type Ia (GSDIa)

Phase 1/2


Doctors at university medical centers in CT, MI, and TX are recruiting adult patients with Glycogen Storage Disease Type Ia (GSDIa) to trial an investigative gene therapy. The therapy involves a single injection of a genetically engineered adenovirus to target liver cells, transferring to them a synthetic version of the Glucose-6-Phosphatase (G6Pase) gene. This replacement gene, mutated in GSDIa patients, can produce the correct protein and is intended to restore normal metabolic function, improve quality of life, and increase chances of survival.

A single infusion of the drug at one of 3 dosages is required, with follow up for 1 year. The virus utilized is engineered not to cause disease in the patients.


  • Be 18 years of age or older
  • Diagnosis of GSDIa with confirmation by molecular testing
  • Have stable status of GSDIa disease as evidenced by no hospitalization for severe hypoglycemia during the 4-week period preceding the screening visit
  • Meet additional screening requirements for liver health, including no history of liver or liver cell transplant


  1. Prescreening tests to confirm eligibility of the patient to participate.
  2. A single intravenous administration of the trial drug.
  3. Follow up at 6, 12, 24, and 52 weeks in the year after treatment.


The following study sites are coordinating:

UCONN Health in Farmington, CT. Map.

Michigan Medicine University of Michigan in Ann Arbor, MI. Map.

UTHealth – McGovern Medical School in Houston, TX. Map.


Medical Information  |  1-888-756-8657  |  [email protected]



Ultragenyx Pharmaceutical Inc


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