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  11. Societal Costs And Quality Of Life Associated With Arginase 1 Deficiency In A European Setting - A Multinational, Cross-sectional Survey

Societal costs and quality of life associated with arginase 1 deficiency in a European setting - a multinational, cross-sectional survey

Sara Olofsson1, Sofia Löfvendahl1, Julia Widén2

  • 1The Swedish Institute for Health Economics, IHE, Lund, Sweden.

Journal of Medical Economics
|September 4, 2024

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View abstract on PubMed

Summary
This summary is machine-generated.

Arginase 1 deficiency (ARG1-D) imposes a substantial societal cost, exceeding £63,000 annually per patient, significantly impacting quality of life. Early diagnosis and improved treatments for this rare disease could enhance patient outcomes and reduce economic burden.

Area of Science:

  • Biomedical research
  • Rare disease epidemiology
  • Health economics

Background:

  • Arginase 1 deficiency (ARG1-D) is an ultra-rare genetic disorder.
  • It leads to progressive mobility and cognitive impairments, often resulting in early mortality.
  • The societal impact of ARG1-D extends beyond healthcare costs.

Purpose of the Study:

  • To estimate the societal burden of Arginase 1 deficiency.
  • To quantify the economic impact and health-related quality of life (HRQoL) in patients with ARG1-D.

Main Methods:

  • A web-based survey was conducted in four European countries (France, Portugal, Spain, UK).
  • Patients with ARG1-D and their caregivers provided data on symptoms (GMFCS, cognitive function), healthcare utilization, and HRQoL (EQ-5D-5L).
Keywords:
Arginase 1 deficiencyII00I3

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Main Results:

  • The mean annual societal cost per patient was estimated at £63,775.
  • Costs significantly increased with the severity of mobility and cognitive impairment.
  • Patient utility scores (EQ-5D-5L) were significantly lower in individuals with greater impairment.

Conclusions:

  • Arginase 1 deficiency is associated with a high societal cost and significant reduction in HRQoL.
  • Earlier diagnosis and effective treatments could improve patient outcomes and generate societal savings.
  • Further research with larger sample sizes is warranted to confirm findings.
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caregiver
health-related quality-of-life
societal cost
survey