Experts’ Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective

IF 2.8 3区医学 Q1 Pharmacology, Toxicology and Pharmaceutics

Therapeutics and Clinical Risk Management Pub Date : 2024-09-13 DOI:10.2147/tcrm.s475744

Majid Alfadhel, Nouriya Al Sannaa, Rawda Sunbul, Huda Al-Khawaja, Sumayah Askandarani, Talal Alanzi, Mamoun Elawad, Konstantinos Fourtounas

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引用次数: 0

Abstract

Abstract: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A gene mutations. Its global incidence ranges from 1:40,000 to 1:170,000. This expert review evaluates the available guidelines, the status of diagnosed but untreated patients with FD, and the challenges in diagnosing and managing FD in the Kingdom of Saudi Arabia (KSA). An advisory board meeting (ABM) was conducted in two phases, with a survey that aimed to receive insights on the current unmet needs in the management of patients with FD in November 2022, and a second, offline meeting in February 2023. The goal of this ABM was to discuss current unmet needs in the management of Fabry patients in the Kingdom of Saudi Arabia. In the first ABM, experts opined on the best practices in the diagnosis, screening, and management of FD for healthcare professionals. These opinions on the management of FD relied on data from research and expert clinical judgments. In the second ABM, the same panel discussed different aspects of FD diagnosis, treatment, and management in the member countries of the Gulf Cooperation Council. The experts discussed the stigma associated with FD, patient awareness and knowledge, genetic screening, biomarkers, and home infusion therapy. They reviewed international guidelines and clinical criteria for enzyme replacement therapy (ERT). Furthermore, they also discussed the diagnosis of FD in men and women, the current guidelines followed for monitoring patients with FD, monitoring untreated patients with FD, Fabry Stabilization IndeX (FASTEX) as an assessment tool for the diagnosis of FD, FD management in KSA, challenges encountered while prescribing ERT in patients with FD, and the clinical criteria for starting ERT. The discussions led to the conclusion that currently, ERT is the only available therapy to manage FD and research should be focused on the early diagnosis and management of FD.

Keywords: classical, enzyme replacement therapy, Fabry disease, late-onset, monitoring, phenotype

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法布里病管理方面的专家意见和未满足的医疗需求：沙特视角

摘要：法布里病（FD）是一种由α-半乳糖苷酶A基因突变引起的X连锁溶酶体储积症。其全球发病率从 1:40,000 到 1:170,000 不等。本专家综述评估了沙特阿拉伯王国（KSA）现有的指南、已确诊但未接受治疗的 FD 患者的状况以及诊断和管理 FD 所面临的挑战。咨询委员会会议（ABM）分两个阶段进行，2022 年 11 月进行了一次调查，旨在了解目前在 FD 患者管理方面尚未满足的需求，2023 年 2 月进行了第二次线下会议。本次 ABM 的目标是讨论沙特阿拉伯王国法布里患者管理方面目前尚未满足的需求。在第一次 ABM 中，专家们就 FD 的诊断、筛查和管理方面的最佳实践为医护人员提供了意见。这些关于 FD 管理的意见依赖于研究数据和专家的临床判断。在第二次预期成果管理会议上，同一小组讨论了海湾合作委员会成员国在 FD 诊断、治疗和管理方面的不同问题。专家们讨论了与 FD 相关的耻辱感、患者意识和知识、基因筛查、生物标记物和家庭输液疗法。他们回顾了酶替代疗法（ERT）的国际指南和临床标准。此外，他们还讨论了男性和女性的 FD 诊断、监测 FD 患者的现行指南、监测未经治疗的 FD 患者、作为 FD 诊断评估工具的法布里稳定指数（FASTEX）、KSA 的 FD 管理、为 FD 患者开具 ERT 处方时遇到的挑战以及开始 ERT 的临床标准。讨论得出的结论是，目前ERT是治疗法布里病的唯一可用疗法，研究重点应放在法布里病的早期诊断和管理上。关键词：经典、酶替代疗法、法布里病、晚发、监测、表型

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来源期刊

Therapeutics and Clinical Risk Management HEALTH CARE SCIENCES & SERVICES-

CiteScore

5.30

自引率

3.60%

发文量

139

审稿时长

16 weeks

期刊介绍： Therapeutics and Clinical Risk Management is an international, peer-reviewed journal of clinical therapeutics and risk management, focusing on concise rapid reporting of clinical studies in all therapeutic areas, outcomes, safety, and programs for the effective, safe, and sustained use of medicines, therapeutic and surgical interventions in all clinical areas. The journal welcomes submissions covering original research, clinical and epidemiological studies, reviews, guidelines, expert opinion and commentary. The journal will consider case reports but only if they make a valuable and original contribution to the literature. As of 18th March 2019, Therapeutics and Clinical Risk Management will no longer consider meta-analyses for publication. The journal does not accept study protocols, animal-based or cell line-based studies.