Disease burden among patients with Arginase 1 deficiency and their caregivers: A multinational, cross-sectional survey.

ABSTRACT: Arginase 1 deficiency (ARG1-D) is an ultrarare, metabolic disease which may cause spastic paraplegia, cognitive deficiency, seizures, and ultimately severe disability. The aim of this study was to assess disease burden in ARG1-D by performing a cross-sectional survey of patients with ARG1-D and their caregivers in four European countries (France, Portugal, Spain, and the United Kingdom). Patients were enrolled at participating clinics and data were collected using a web-based questionnaire. The findings indicate that there is a significant share of patients who experience severe cognitive and mobility impairment but also that there is a considerable variance in symptom severity among patients. Disease management was mostly in line with treatment guidelines and self-reported adherence to tr

SUBMITTER: Olofsson S 

PROVIDER: S-EPMC11540579 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature