Trial Interviews to Explore Glycogen Storage Disease Type Ia Patient Experiences Following Gene Therapy.

ABSTRACT:

Background

Glycogen storage disease type Ia (GSDIa) is a rare, inherited, autosomal recessive deficiency of glucose-6-phosphatase (G6Pase), an enzyme necessary in glycogenolysis and gluconeogenesis. To maintain normal blood glucose levels and ensure survival, individuals living with GSDIa must frequently consume complex carbohydrates (eg, uncooked cornstarch). Dietary management can result in chronic complications and significant patient burden. DTX401 (pariglasgene brecaparvovec) is an investigational adeno-associated virus serotype 8 vector (AAV8)-based gene therapy designed to restore endogenous glucose production.

Objectives

Patient experience interviews were conducted as part of an open-label, phase 1/2 dose-escalation trial (NCT03517085) evaluating the safety and effic

SUBMITTER: Turner-Bowker DM 

PROVIDER: S-EPMC12906305 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature