全球神经病变戈谢病登记处（GARDIAN）：一项患者主导的倡议。

A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative.

机构信息

International Gaucher Alliance (IGA), 86-90 Paul Street, London, EC2A 4NE, UK.

International Gaucher Alliance, 86-90 Paul Street, London, EC2A 4NE, UK.

出版信息

Orphanet J Rare Dis. 2023 Jul 21;18(1):195. doi: 10.1186/s13023-023-02828-w.

DOI:10.1186/s13023-023-02828-w

PMID:37480076

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10360308/

Abstract

BACKGROUND

Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder. GD types 2 and 3 are known as neuronopathic Gaucher disease (nGD) because they have brain involvement that progresses over time. Implementing a systematic approach to the collection of real-world clinical and patient-relevant outcomes data in nGD presents an opportunity to fill critical knowledge gaps and ultimately help healthcare providers in the management of this patient population. This paper summarizes the development of a patient-initiated Gaucher Registry for Development Innovation and Analysis of Neuronopathic Disease (GARDIAN).

METHODS

The International Gaucher Alliance led the GARDIAN planning, including governance, scope, stakeholder involvement, platform, and reporting. Registry element input was determined in a series of meetings with clinical experts, patients, and caregivers, who identified key clinical variables and the draft content of nGD patient-reported outcomes (PRO) and observer-reported outcomes (ObsRO) focusing on symptoms, patient physical and emotional functioning. These were then tested in cognitive interviews with patients with nGD (> 12 years of age) and caregivers.

RESULTS

Core registry data elements (n = 138) were identified by seven global clinical experts from Egypt, Germany, Israel, Japan, United Kingdom (UK), and United State (US) and reviewed via online Delphi method by 14 additional clinicians with experience of nGD from six countries and three pharmaceutical representatives. The elements were consistent with those identified via interviews with 10 patients/caregivers with nGD from Japan, Sweden, UK, and US. Key domains identified were demographics, diagnostic information, health status, clinical symptomatology, laboratory testing, treatment, healthcare resource utilization, aids/home improvements, and patient/caregiver burden and quality of life, specifically physical functioning, self-care, daily and social activities, emotional impacts, support services, and caregiver-specific impacts. Nine caregivers and six patients from the US, UK, China, Mexico, Egypt, and Japan participated in the cognitive interviews that informed revisions to ensure that all items are understandable and interpreted as intended.

CONCLUSIONS

The comprehensive set of clinical and patient relevant outcomes data, developed collaboratively among all stakeholders, to be reported using GARDIAN will bridge the many gaps in the understanding of nGD and align with regulatory frameworks on real-world data needs.

摘要

背景

戈谢病（Gaucher disease，GD）是一种罕见的常染色体隐性溶酶体贮积症。GD 型 2 和 3 已知为神经病变戈谢病（neuronopathic Gaucher disease，nGD），因为它们具有随时间推移而进展的脑受累。对 nGD 中真实临床和患者相关结局数据进行系统收集，为填补关键知识空白并最终帮助医疗保健提供者管理此类患者群体提供了机会。本文总结了患者发起的戈谢病神经病变开发创新和分析登记（Gaucher Registry for Development Innovation and Analysis of Neuronopathic Disease，GARDIAN）的开发情况。

方法

国际戈谢联盟（International Gaucher Alliance）牵头开展了 GARDIAN 规划，包括治理、范围、利益相关者参与、平台和报告。通过一系列会议，与临床专家、患者和照护者一起确定了登记要素的输入内容，他们确定了关键临床变量和 nGD 患者报告结局（patient-reported outcomes，PRO）和观察报告结局（observer-reported outcomes，ObsRO）的草案内容，重点关注症状、患者身体和情绪功能。然后，对来自日本、瑞典、英国和美国的 10 名 nGD 患者和照护者进行了认知访谈，对这些内容进行了测试。

结果

来自埃及、德国、以色列、日本、英国和美国的 7 名全球临床专家确定了核心登记数据要素（n = 138），并通过来自 6 个国家和 3 家制药代表的 14 名具有 nGD 经验的额外临床医生，通过在线 Delphi 方法对其进行了审查。这些要素与来自日本、瑞典、英国和美国的 10 名 nGD 患者和照护者访谈中确定的要素一致。确定的关键领域包括人口统计学信息、诊断信息、健康状况、临床症状、实验室检查、治疗、医疗资源利用、辅助器具/家居改善，以及患者/照护者负担和生活质量，特别是身体功能、自我护理、日常和社会活动、情绪影响、支持服务和照护者的特殊影响。来自美国、英国、中国、墨西哥、埃及和日本的 9 名照护者和 6 名患者参加了认知访谈，对访谈结果进行了修订，以确保所有项目都易于理解且按预期解读。