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.
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; on behalf of the GSD Value Consortium
Disease Category: Genetic disorders
Disease Name: Liver glycogen storage diseases (GSDs)
Age Range: 0 - 100
Sex: Either
Nature of Intervention: Any
- Clinical experts
- Consumers (caregivers)
- Consumers (patients)
- Patient/ support group representatives
- Pharmaceutical industry representatives
- COS for clinical trials or clinical research
- COS for practice
- COS for registry
- Nominal group technique (NGT)
- Systematic review