Person-centered outcomes for liver glycogen storage diseases: Development of an international consensus-based standard outcome set
Year: 2025
Type: article
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.
Source: Genetics in Medicine
Authors: 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, Alberto Ferriani, Alessandro Rossi, Allan Lund, Amani Husaineid, Ana Drole Torkar, Andrea Haijer-Schreuder, Anne Hugon, Anne Mei-Kwun Kwok, Blaire Stone-Schneider, Boelo G.F.D. Boelens, Camilla Carøe, Carmen Rosano, Carolina Fischinger Moura De Souza, Damian Cohen, David Rodriguez-Buritica, Deberah Goldman, Denise Boss-Lagerwaard, Enrique Lande Contreras, Fatih Ezgu, Fred van Eenennaam, Frédéric Vanneste, Frederiec K. Withaar, Gayle W. Temkin, Hanka Dekker, Heather Saavedra, Helen Mundy, Ida Schwartz, Iris Ferrecchia, Jamas LaFreniere, Jana Šaligová, John Mitchell, Julieta Bonvin Sallago, Katie Ouellette, Klaudia Meszes, Louise Engelbrecht, Luisa Diogo, Magali Reyes-Apodaca, Malaya Mount, Marcia Makdisse, Marcus Landgren, María Clemente León, Marie-Cécile Nassogne, Marieke Fokkert-Wilts, Marjorie Dixon, Melanie M. van der Klauw, Merve Koç Yekedüz, Mirela Adriana Borhan, Monika Williams, Nerea López Maldonado, Patricia Janeiro, Patricia Pilar Perez Mohand, Priya S. Kishnani, Rani Singh, Rebecca Halligan, Rebecca Koch, Rebecca Riba-Wolman, René Santer, Ruben J. Overduin, Sarah C. Grünert, Steven Buijs, Sunita Bijarnia-Mahay, Terry G.J. Derks, Thomas Casswall, Ute Stachelhaus-Theimer, Yunkoo Kang
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $5,110
OpenAlex ID: W4414480718