Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries,Molecular Genetics and Metabolism Reports

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Disease burden, management patterns and multidisciplinary clinical approaches for patients with MPS IVA and VI in selected Latin American Countries
Molecular Genetics and Metabolism Reports ( IF 1.9 ) Pub Date : 2021-05-25 , DOI: 10.1016/j.ymgmr.2021.100769
Villarreal M Solano ₁ , Claudia Yazmín Cossío Mandujano ₂ , Carmen Amor Avila-Rejon ₃ , Victor Hugo Espin ₄ , Hector Paul Quintero Montaño ₅

Affiliation

Background

There is a paucity of real-world epidemiological data on patients with mucopolysaccharidoses (MPS) in Latin America. This real-world study assessed the disease burden, management patterns and multidisciplinary clinical approaches for MPS-IVA and MPS-VI patients in Latin America (Colombia, Ecuador, Mexico, Peru).

Methods

Data were collected from physicians/specialists experienced in treating MPS patients between April–June 2020, via an online patient-diary survey.

Results

Overall, 29 physicians/specialists participated in this study. Data from 98 patients were analyzed (MPS-IVA, 71 patients and MPS-VI, 27 patients). Mean age for MPS-IVA patients was 17.5 years and for MPS-VI patients was 11.6 years, and the majority were females (52% and 78%, respectively). MPS-IVA and VI patients presented a high absenteeism from school (55% and 37%, respectively; <18 years age) and workplace (78% and 100%, respectively; >18 years age), indicating an impact of the disease on some aspects of the patients' quality of life. The onset of the first symptom occurred at the age of 3.1 years for MPS-IVA patients and at 1 year for MPS-VI, with delay in diagnosis (3.5–3.9 years from symptom onset) and enzyme replacement therapy (ERT) initiation (1.1–3.6 years from diagnosis). ERT interruptions were observed for MPS-IVA (48%) and MPS-VI patients (44%), with non-availability of medication recorded as the main reason for non-adherence (46% and 60% patients, respectively). ERT showed noticeable treatment benefits in MPS-IVA/VI patients, with stabilization/reduction in complications or the number of surgeries. A multidisciplinary clinical team approach was used for patient management.

Conclusion

The disease burden for MPS-IVA/VI was high in Latin America, with consistent management, treatment and socio-demographic trends throughout the region.

中文翻译：

选定拉丁美洲国家 MPS IVA 和 VI 患者的疾病负担、管理模式和多学科临床方法

背景

关于拉丁美洲粘多糖贮积症 (MPS) 患者的真实流行病学数据很少。这项真实世界研究评估了拉丁美洲（哥伦比亚、厄瓜多尔、墨西哥、秘鲁）MPS-IVA 和 MPS-VI 患者的疾病负担、管理模式和多学科临床方法。

方法

通过在线患者日记调查，从 2020 年 4 月至 6 月期间有治疗 MPS 患者经验的医生/专家那里收集数据。

结果

总体而言，有 29 名医生/专家参与了这项研究。分析了 98 名患者的数据（MPS-IVA，71 名患者和 MPS-VI，27 名患者）。MPS-IVA 患者的平均年龄为 17.5 岁，MPS-VI 患者的平均年龄为 11.6 岁，且大多数为女性（分别为 52% 和 78%）。MPS-IVA 和 VI 患者在学校（分别为 55% 和 37%；<18 岁）和工作场所（分别为 78% 和 100%；>18 岁）的缺勤率很高，表明该疾病对患者生活质量的某些方面。MPS-IVA 患者和 MPS-VI 患者在 3.1 岁和 1 岁时出现首发症状，诊断延迟（症状出现后 3.5-3.9 年）和酶替代疗法（ERT）开始（1.1 –诊断后 3.6 年）。在 MPS-IVA (48%) 和 MPS-VI 患者 (44%) 中观察到 ERT 中断，药物不可用是不依从性的主要原因（分别为 46% 和 60% 的患者）。ERT 在 MPS-IVA/VI 患者中显示出显着的治疗益处，并发症或手术次数稳定/减少。多学科临床团队方法用于患者管理。