Genetics in medicine : official journal of the American College of Medical Genetics · 2025
Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set.
Consensus StatementСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Overduin Ruben J, Haijer-Schreuder Andrea B, Withaar Frederiec K, Grünert Sarah C, LaFreniere Jamas, Contreras Enrique L, Temkin Gayle W, Stone-Schneider Blair, Vanneste Frédéric, Dekker Hanka, Fokkert-Wilts Marieke J, van der Klauw Melanie M, Weinstein David A, Rossi Alessandro, Derks Terry G J, GSD Value Consortium
Аннотация
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.
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.