Presentation (CTI)

OBJECTIVES: Niemann-Pick disease (NPD) is a rare, progressive disorder associated with substantial socioeconomic burden. This targeted literature review (TLR) aimed to identify and synthesize evidence on healthcare costs, healthcare resource utilization (HCRU), cost-effectiveness, and health state utilities to identify evidence gaps for future research.
METHODS: A TLR was conducted in Embase^® from database inception to June 2026 using predefined eligibility criteria. Data on study characteristics, HCRU, costs, cost-effectiveness, and health state utilities were extracted.
RESULTS: Nine studies (2012-2026) from Canada, Portugal, the US, Brazil, the UK, and multinational settings were included. A Canadian economic evaluation reported that plasma oxysterol screening for NPD was cost-saving, reducing costs by CAD 3,642 and gaining 0.0022 quality-adjusted life years (QALYs) per patient. A Portuguese study reported substantial direct healthcare costs associated with management of NPD. Cost and HCRU studies demonstrated considerable disease burden. In the US, 70.0% of patients were aged < 18 years, with respiratory disorders accounting for most hospitalizations and emergency visits. In Brazil, hospitalizations increased from 33.3% at diagnosis to 45.9% during follow-up. A multinational chart review reported that 50.0% of patients with chronic neurovisceral NPD required home healthcare, 16.0% required home schooling, and 22.0% experienced impaired work ability. The UK utility study showed utility values declined from 0.92-0.94 in mild disease to 0.33-0.45 in severe disease. The US survey found that 61.0% of respondents with NPD were unaware of Medicaid waivers, suggesting barriers to healthcare access.
CONCLUSIONS: Available evidence demonstrates a substantial economic burden associated with NPD and highlights the need for further research on cost-effectiveness and health utility outcomes.