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.
Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set / Overduin, R.J., Haijer-Schreuder, A.B., Withaar, F.K., Grünert, S.C., Lafreniere, J., Contreras, E.L., Temkin, G.W., Stone-Schneider, B., Vanneste, F., Dekker, H., Fokkert-Wilts, M.J., Van Der Klauw, M.M., Weinstein, D.A., Rossi, A., Derks, T.G.J.. - In: GENETICS IN MEDICINE. - ISSN 1530-0366. - 27:12(2025). [10.1016/j.gim.2025.101589]
Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set
Rossi, Alessandro;
2025
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
