Person-centered outcomes for liver glycogen storage diseases: development of an international consensus-based standard outcome set.

IF 6.2 1区医学 Q1 GENETICS & HEREDITY

Genetics in Medicine Pub Date : 2025-09-23 DOI:10.1016/j.gim.2025.101589

Ruben J Overduin, Andrea B Haijer-Schreuder, Frederiec K Withaar, Sarah C Grünert, Jamas LaFreniere, Enrique L Contreras, Gayle W Temkin, Blair Stone-Schneider, Frédéric Vanneste, Hanka Dekker, Marieke J Fokkert-Wilts, Melanie M van der Klauw, David A Weinstein, Alessandro Rossi, Terry G J Derks

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引用次数: 0

Abstract

Purpose: Health care and clinical trials for persons with liver glycogen storage diseases (GSD) can be improved by a consensus-based standard set of person-centered health outcomes, including patient-reported outcome measures.

Methods: Persons with GSD (n=6), caregivers (n=17), multidisciplinary health care providers (n=38), industry representatives (n=7), and value-based health care experts (n=4) from 25 countries participated in an international, iterative nominal consensus process to identify the most important health outcomes and case-mix variables for liver GSD.

Results: The following 14 health outcomes are recommended for measurement: (1) cure, (2) life-threatening GSD-related events, (3) glycemic control, (4) metabolic control, (5) acute metabolic decompensations, (6) GSD-related complications, (7) time to treatment of intercurrent complications, (8) time to return to functional status, (9) access and availability of GSD expertise care, (10) access and availability of GSD-related diagnostic, monitoring and treatment products, (11) quality of life, (12) independence, (13) treatment adherence, and (14) food intake problems. A list of 29 case-mix variables was composed of demographic, diagnostic, clinical, and treatment factors. Recommendations were formulated on frequency of measurements.

Conclusion: An international consensus-based standard set of person-centered health outcomes for liver GSD was developed to apply in health care, registries, and clinical trials.

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以人为中心的肝糖原储存疾病的结局：国际共识为基础的标准结局集的发展。

目的：肝糖原储存病（GSD）患者的卫生保健和临床试验可以通过基于共识的以人为中心的健康结局标准集来改善，包括患者报告的结果测量。方法：来自25个国家的GSD患者（n=6）、护理人员（n=17）、多学科卫生保健提供者（n=38）、行业代表（n=7）和基于价值的卫生保健专家（n=4）参与了一个国际的、迭代的名义共识过程，以确定肝脏GSD最重要的健康结局和病例组合变量。结果：建议测量以下14项健康结果：(1)治愈，(2)危及生命的GSD相关事件，(3)血糖控制，(4)代谢控制，(5)急性代谢失代偿，(6)GSD相关并发症，(7)治疗并发并发症的时间，(8)恢复功能状态的时间，(9)GSD专业护理的获取和可用性，（10）GSD相关诊断、监测和治疗产品的获取和可用性，（11）生活质量，（12）独立性，（13）治疗依从性，（14）食物摄入问题。29个病例混合变量的列表由人口统计学、诊断、临床和治疗因素组成。对测量频率提出了建议。结论：制定了一套基于国际共识的以人为中心的肝脏GSD健康结局标准集，用于医疗保健、登记和临床试验。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genetics in Medicine 医学-遗传学

CiteScore

15.20

自引率

6.80%

发文量

857

审稿时长

1.3 weeks

期刊介绍： Genetics in Medicine (GIM) is the official journal of the American College of Medical Genetics and Genomics. The journal''s mission is to enhance the knowledge, understanding, and practice of medical genetics and genomics through publications in clinical and laboratory genetics and genomics, including ethical, legal, and social issues as well as public health. GIM encourages research that combats racism, includes diverse populations and is written by authors from diverse and underrepresented backgrounds.