Glycogen storage disease type III: a mixed-methods study to assess the burden of disease.

ABSTRACT: Glycogen storage disease type III (GSD III) is a rare inherited disorder that results from a glycogen debranching enzyme deficiency. The purpose of this research was to collect data on the signs, symptoms, and impacts of GSD III from the perspective of adult patients and caregivers of individuals with GSD III. Online survey and qualitative interviews. Following institutional review board approval, adult patients and caregivers of children with GSD III were recruited through advocacy networks and clinical sites. If eligible, participants were consented, screened, and sent a survey and/or participated in a 60-min interview. The survey and interview included questions about family history, diagnosis, signs and symptoms, impacts, and management of GSD III. Conceptual models were developed foll

SUBMITTER: Evins A 

PROVIDER: S-EPMC10775738 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature