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Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based
Ruben J Overduin1, Andrea B Haijer-Schreuder1, Frederiec K Withaar2
1Department of Metabolic Diseases, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands; UMCG Center of Expertise for Carbohydrate, Fatty Acid Oxidation and Ketone Bodies Disorders, University Medical Center Groningen, Groningen, The Netherlands.
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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