Systemic complications of Aicardi Goutieres syndrome using real-world data.

ABSTRACT:

Objective

Aicardi Goutières Syndrome (AGS) is a rare genetic interferonopathy associated with diverse multisystemic complications. A critical gap exists in our understanding of its longitudinal, systemic disease burden, complicated by delayed diagnosis. To address this need, real-world data extracted from existing medical records were used to characterize the longitudinal disease burden.

Methods

All subjects (n = 167) with genetically confirmed AGS enrolled in the Myelin Disorders Biorepository Project (MDBP) were included. As available in medical records, information was collected on subject demographics, age of onset, and disease complications. Information from published cases of AGS (2007-2022; n = 129) with individual-level data was also collected. Neurologic severity at

SUBMITTER: Peixoto de Barcelos I 

PROVIDER: S-EPMC12302025 | biostudies-literature | 2024 Sep-Oct

REPOSITORIES: biostudies-literature