Economic burden of Sanfilippo syndrome in the United States

Sanfilippo syndrome is a rare disease and fatal genetic disorder with no FDA-approved treatment in the United States (US), and no comprehensive assessment of economic disease burden is available.

To develop a model to project the economic burden associated with Sanfilippo syndrome in the US using direct costs, indirect costs and valued intangibles (disability-adjusted life years, or DALYs) from 2023 onward.

A multistage comorbidity model was generated based on Sanfilippo syndrome symptoms, and disability weights from the 2010 Global Burden of Disease Study. Attributable increase in caregiver mental health burden was estimated using data from the CDC National Comorbidity Survey and retrospective studies on caregiver burden. Direct costs were approximated from the 2019 EveryLife Foundation survey, and indirect costs were estimated from Federal income data. Monetary valuations were adjusted to USD 2023 and given a 3% discount rate from 2023 onward.

Incidence of Sanfilippo syndrome was calculated for each age group in each year, and year-over-year DALYs due to patient years lived with disability (YLDs) and years life lost (YLLs) were calculated by comparing to the health-adjusted life expectancy (HALE) in the US.

From 2023 to 2043, overall economic burden in the US attributable to Sanfilippo syndrome was estimated to be $2.19 billion USD present value (2023) with current standard of care. The burden to individual families exceeded millions of dollars in present value from time of birth per child born with Sanfilippo syndrome.

Sanfilippo syndrome is a rare lysosomal storage disease, however the severe burden associated with the disease for individual families suggests a possible cumulative impact. Our model represents the first disease burden value estimate associated with Sanfilippo syndrome, and underscores the substantial morbidity and mortality burden of Sanfilippo syndrome.