Genet Med. 2025 Sep 23:101589. doi: 10.1016/j.gim.2025.101589. Online ahead of print.
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.
PMID:41014099 | DOI:10.1016/j.gim.2025.101589
