P448: Burden of healthcare system navigation on people and families living with glycogen storage disease type Ia and their care team

Genetics in Medicine Open 2026 Open access

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Authors: Elizabeth Magassy Dorn, Malaya Mount, Adam Diamond, Tristan Di Maro, Jose Marrero, Chad Ward, Anne Blake, Kristin N. Voorhees, Priya Kishnani
DOI: 10.1016/j.gimo.2026.103940
Cited by: 0

Abstract

Glycogen storage disease type Ia (GSDIa) is a rare inherited disorder caused by a defective gene for the glucose-6-phosphatase enzyme, which impairs the body’s ability to break down glycogen into glucose and regulate blood sugar. There are currently no approved medicines to treat the underlying cause of GSDIa. Disease management requires constant vigilance, detailed planning, and self-advocacy. GSDIa is associated with a high healthcare burden. However, the challenges that patients of all ages, their caregivers, and healthcare professionals (HCPs) face while navigating the healthcare system are not well characterized in the literature.

Fields of Study & Subjects

Glycogen Storage Diseases and Myoclonus Lysosomal Storage Disorders Research Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103940–103940
Publication date
1 January 2026
Language
EN