Affiliation:
1. University of Florida College of Medicine
2. University of Florida College of Pharmacy
Abstract
Abstract
Introduction: Sanfilippo syndrome is a rare disease and fatal genetic disorder in the United States with no FDA-approved treatment, and no comprehensive assessment of economic disease burden is available.Objective To develop a model to estimate the economic burden associated with Sanfilippo syndrome in the United States (US) using valued intangibles (disability-adjusted life years lost) and indirect burden (lost caregiver productivity) from 2023 onward.Design and Setting: A multistage comorbidity model was generated using publicly available literature on Sanfilippo syndrome disability, and 14 disability weights from the 2010 Global Burden of Disease Study. Attributable increase in caregiver mental health burden and caregiver productivity loss were also estimated using data from the CDC National Comorbidity Survey, retrospective studies on caregiver burden in Sanfilippo syndrome, and the Bureau of Labor Statistics. Monetary valuations were adjusted to USD 2023 and given a 3% discount rate from 2023 onward.Main Outcomes and Measures: Year-over-year incidence and prevalence of Sanfilippo syndrome was calculated for each age group in each year, and year-over-year disability-adjust life years (DALYs) lost due to patient disability was calculated by comparing to health-adjusted life expectancy (HALE), considering years of life lost (YLLs) due to premature mortality and years lived with disability (YLDs). Intangibles were valued in USD 2023, adjusted for inflation and discounted to provide economic burden of disease.Results From 2023–2043, overall economic burden in the US attributable to Sanfilippo syndrome was estimated to be $1.55 billion USD with current standard of care. The burden to individual families exceeded $5.86 million present value from time of birth per child born with Sanfilippo syndrome. These figures are also a conservative estimate, since they do not consider direct cost associated with the disease, as extensive primary data on the direct healthcare cost of Sanfilippo syndrome does not currently exist in the literature.Conclusions and Relevance: Sanfilippo syndrome is a rare lysosomal storage disease, however the severe burden associated with the disease for individual families demonstrates a profound cumulative impact. Our model represents the first disease burden estimate associated with Sanfilippo syndrome. This underscores the substantial morbidity and mortality burden of Sanfilippo syndrome.
Publisher
Research Square Platform LLC