Ashby Frederick, Park Haesuk, Svensson Mikael, Heldermon Coy D
College of Medicine, University of Florida - Gainesville, Florida, USA.
College of Pharmacy, University of Florida - Gainesville, Florida, USA.
Res Sq. 2023 Nov 1:rs.3.rs-3001450. doi: 10.21203/rs.3.rs-3001450/v1.
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 estimate 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 were 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 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. Direct and indirect costs were calculated for each simulated patient from onset of symptoms to death.
From 2023-2043, overall economic burden in the US attributable to Sanfilippo syndrome was estimated to be $2.04 billion USD present value (2023) with current standard of care. The burden to individual families exceeded $8 million 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 demonstrates a considerable 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.
桑菲利波综合征是一种罕见的致命性遗传疾病，在美国没有获得美国食品药品监督管理局（FDA）批准的治疗方法，并且目前尚无对其经济疾病负担的全面评估。
建立一个模型，使用从2023年起的直接成本、间接成本和价值无形资产（伤残调整生命年，即DALYs）来估计美国桑菲利波综合征相关的经济负担。
基于桑菲利波综合征症状生成了一个多阶段共病模型，并采用了2010年全球疾病负担研究中的伤残权重。使用美国疾病控制与预防中心国家共病调查数据以及关于照顾者负担的回顾性研究来估计照顾者心理健康负担的归因增加。直接成本根据2019年EveryLife基金会的调查进行估算，间接成本根据联邦收入数据进行估计。货币估值调整为2023年的美元价值，并从2023年起给予3%的贴现率。
计算每年桑菲利波综合征的发病率，并通过与美国健康调整预期寿命（HALE）进行比较，计算因患者残疾生存年数（YLDs）和寿命损失年数（YLLs）导致的逐年DALYs。计算每个模拟患者从症状出现到死亡的直接和间接成本。
从2023年到2043年，按照当前护理标准，美国因桑菲利波综合征产生的总体经济负担估计为20.4亿美元现值（2023年）。对于每个患有桑菲利波综合征的孩子，从出生起，单个家庭的负担超过800万美元现值。
桑菲利波综合征是一种罕见的溶酶体贮积病，然而该疾病给个体家庭带来的严重负担显示出相当大的累积影响。我们的模型代表了与桑菲利波综合征相关的首个疾病负担价值估计，并强调了桑菲利波综合征的巨大发病和死亡负担。
