Borin Marcus Carvalho, Alvares-Teodoro Juliana, Acurcio Francisco Assis, Guerra Augusto Afonso
Department of Social Pharmacy, Faculty of Pharmacy, Federal University of Minas Gerais, Belo Horizonte, Brazil.
SUS Collaborating Center for Technology Assessment and Excellence in Health, Faculty of Pharmacy, Federal University of Minas Gerais, Belo Horizonte, Brazil.
Front Pharmacol. 2024 Sep 26;15:1433970. doi: 10.3389/fphar.2024.1433970. eCollection 2024.
Gaucher's disease (GD), a lysosomal storage disorder, poses significant treatment challenges. This 23-year study assesses survival rates and treatment efficacy in Brazilian GD patients, integrating data from a 16-year cohort (2000-2015) and the TABNET/DATASUS medicines distribution data (1999-2022).
To investigate the survival of GD patients in Brazil, identifying key risk factors and evaluating the impact of treatments funded by the Brazilian National Health System (SUS).
A 16-year retrospective cohort study was conducted using the National Database of SUS. Patients diagnosed with GD and treated with Enzyme Replacement Therapy (ERT) or Substrate Synthesis Inhibition (SSI) from 2000 to 2015 were included. Survival analysis was performed using Kaplan-Meier method and Cox proportional hazards model. The data from TABNET/DATASUS system from 1999 to 2022 was used to assess the trend in drug distribution beyond the main cohort.
The study included 1,234 patients. Survival rates at 5 and 10 years were 93.2% and 88.5%, respectively, with age and comorbidities like diabetes, cardiovascular diseases, and Parkinson's disease significantly affecting survival. Patients who received doses lower than DDD (n = 880) demonstrated a survival probability of 91.8%. In contrast, those with doses equal to the DDD (n = 15) showed a 100% survival probability, as no events were observed in this group. The greater than DDD group (n = 339) exhibited a survival probability of 81%. A log-rank test indicated a borderline statistical significance ( = 0.058) in the survival distributions among the different DDD adherence, with the lower dose group showing a favorable trend.
This study provides insights into the survival rates and associated risk factors for GD patients in Brazil, contributing to the global understanding of GD and its management. While we acknowledge the inherent limitations of relying largely on electronic medical records and categorical codes, our findings underscore the need for early diagnosis, timely initiation of treatment, effective management of comorbidities, and personalized dosing strategies to improve patient outcomes. Future studies should aim to incorporate clinical verification of electronic data to further enhance the reliability and applicability of these findings.
戈谢病（GD）是一种溶酶体贮积症，带来了重大的治疗挑战。这项为期23年的研究评估了巴西戈谢病患者的生存率和治疗效果，整合了一个16年队列（2000 - 2015年）的数据以及TABNET/DATASUS药品分发数据（1999 - 2022年）。
调查巴西戈谢病患者的生存率，确定关键风险因素，并评估巴西国家卫生系统（SUS）资助的治疗的影响。
使用SUS国家数据库进行了一项为期16年的回顾性队列研究。纳入2000年至2015年期间被诊断为戈谢病并接受酶替代疗法（ERT）或底物合成抑制（SSI）治疗的患者。使用Kaplan - Meier方法和Cox比例风险模型进行生存分析。1999年至2022年来自TABNET/DATASUS系统的数据用于评估主要队列之外的药物分发趋势。
该研究纳入了1234名患者。5年和10年生存率分别为93.2%和88.5%，年龄以及糖尿病、心血管疾病和帕金森病等合并症显著影响生存率。接受低于限定日剂量（DDD）剂量的患者（n = 880）的生存概率为91.8%。相比之下，接受等于DDD剂量的患者（n = 15）的生存概率为100%，因为该组未观察到任何事件。高于DDD剂量组（n = 339）的生存概率为81%。对数秩检验表明不同DDD依从性组之间的生存分布存在临界统计学显著性（P = 0.058），较低剂量组呈现出有利趋势。
本研究为巴西戈谢病患者的生存率及相关风险因素提供了见解，有助于全球对戈谢病及其管理的理解。虽然我们承认主要依赖电子病历和分类代码存在固有局限性，但我们的研究结果强调了早期诊断、及时开始治疗、有效管理合并症以及个性化给药策略以改善患者预后的必要性。未来的研究应旨在纳入电子数据的临床验证，以进一步提高这些研究结果的可靠性和适用性。
