Bento Dos Santos Bruna, de Oliveira Carvalho Faria Cecília, Cirilo Hérica Núbia Cardoso, Dornelles Alícia Dorneles, de Oliveira Junior Haliton Alves, Schwartz Ida Vanessa D
Health Technology Assessment Group in Clinical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
Collective Health, Universidade de Brasília, Brasília, Distrito Federal, Brazil.
J Community Genet. 2025 Feb 13. doi: 10.1007/s12687-025-00770-x.
Access to high-cost drugs for rare diseases poses global challenges, especially in low- and middle-income countries. Pompe Disease (PD) exemplifies these challenges as a case study to analyze Brazil's approach to accessing high-cost therapies. This study aims to characterize access to high-cost drugs for rare diseases in Brazil using PD as a reference and to compare Brazil's approach with global trends in PD treatment. A documentary review on access to PD treatment within Brazil's Unified Health System (SUS) was conducted. This included health technology assessments (HTA) and regulatory decisions from Brazilian and international agencies. Data on the dispensing of alglucosidase alfa from the Brazilian Outpatient Information System (SIA/SUS; Jan 2020-May 2024) were analyzed and compared to previous budget impact estimates. Only alglucosidase alfa is covered by the SUS, and exclusively for Infantile-onset Pompe Disease (IOPD). Projections for vial usage in the SUS were overestimated. Key drivers of access include Ministry of Health policies, HTA recommendations, judiciary decisions, and industry actions. Brazil's access model shows partial alignment with global trends, but significant gaps remain. The study highlights systemic issues that are relevant to other rare diseases, offering insights and lessons for Brazil and other middle-income countries.
获取用于治疗罕见病的高成本药物面临着全球性挑战，在低收入和中等收入国家尤其如此。庞贝病（PD）就是这些挑战的一个典型案例，可作为分析巴西获取高成本治疗方法的一个研究对象。本研究旨在以庞贝病为参考，描述巴西获取罕见病高成本药物的情况，并将巴西的方法与全球庞贝病治疗趋势进行比较。对巴西统一卫生系统（SUS）内获取庞贝病治疗的文献进行了综述。这包括巴西和国际机构的卫生技术评估（HTA）及监管决定。分析了巴西门诊信息系统（SIA/SUS；2020年1月至2024年5月）中阿糖苷酶α的配药数据，并与之前的预算影响估计进行了比较。SUS仅涵盖阿糖苷酶α，且仅用于婴儿型庞贝病（IOPD）。SUS中安瓿使用量的预测被高估了。获取药物的关键驱动因素包括卫生部政策、HTA建议、司法决定和行业行动。巴西的获取模式与全球趋势部分一致，但仍存在显著差距。该研究突出了与其他罕见病相关的系统性问题，为巴西和其他中等收入国家提供了见解和经验教训。
