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

Olofsson S, Löfvendahl S, Widén J, Jacobson L, Lindgren P, Stepien K M, Arnoux J-B, Luz Couce Pico M, Leão Teles E, Rudebeck M

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 treatment was reported to be high among a majority although following diet restrictions was perceived as difficult. However, despite this, since a large share of patients experienced severe cognitive and mobility impairment an unmet need among this patient population is suggested. The introduction of disease-modifying therapies and early identification and diagnosis may help alleviate the disease burden associated with ARG1-D in the future.

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Also read the article: Societal costs and quality of life associated with arginase 1 deficiency in a European setting – a multinational, cross-sectional survey

JIMD Reports. 2024;1‐11
DOI: 10.1002/jmd2.12456