Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.

Autor: Howie AH; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada., Tingley K; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada., Inbar-Feigenberg M; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Canada., Mitchell JJ; McGill University Health Centre, Montreal, Canada., Angel K; The Canadian MPS Society, Vancouver, Canada., Gentle J; Patient Partner, Vancouver, Canada., Smith M; Patient Partner, Canadian Organization for Rare Disorders, Ottawa, Canada., Offringa M; Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada., Butcher NJ; Hospital for Sick Children, Toronto, Canada., Campeau PM; Université de Montréal, Montréal, Canada., Chakraborty P; Children's Hospital of Eastern Ontario, Ottawa, Canada., Chan A; Department of Medical Genetics, University of Alberta, Edmonton, Canada., Fergusson D; Ottawa Hospital Research Institute, Ottawa, Canada., Mamak E; Department of Psychology, Hospital for Sick Children, Toronto, Canada., McClelland P; Children's Hospital of Eastern Ontario, Ottawa, Canada., Mercimek-Andrews S; Department of Medical Genetics, University of Alberta, Edmonton, Canada., Mhanni A; Max Rady College of Medicine, Winnipeg, Canada.; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada., Moazin Z; Children's Hospital of Eastern Ontario, Ottawa, Canada., Rockman-Greenberg C; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada., Rupar CA; Department of Pathology and Laboratory Medicine, Western University, London, Canada., Skidmore B; Independent Information Specialist, Ottawa, Canada., Stockler S; BC Children's Hospital, Vancouver, Canada., Thavorn K; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.; Ottawa Hospital Research Institute, Ottawa, Canada., Wyatt A; Children's Hospital of Eastern Ontario, Ottawa, Canada., Potter BK; School of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Crescent, Ottawa, ON, K1G 5Z3, Canada. bpotter@uottawa.ca.
Jazyk: angličtina
Zdroj: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Oct 23; Vol. 19 (1), pp. 393. Date of Electronic Publication: 2024 Oct 23.
DOI: 10.1186/s13023-024-03364-x
Abstrakt: Background: To inform the development of a core outcome set (COS) for children and youth with mucopolysaccharidoses (MPS), we aimed to identify all outcomes and associated outcome measurement instruments that are reported in recent clinical trials and recommended as measurements in clinical management guidelines.
Methods: To identify English-language clinical trials and guidelines pertaining to MPS published between 2011 and mid-2021, we applied a comprehensive peer-reviewed search strategy to relevant databases and registers on May 16, 2021. Two reviewers independently screened retrieved citations and then full-text articles to determine eligibility for inclusion. From articles meeting inclusion criteria, we extracted details of the study design, population, intervention, and comparator, along with verbatim outcomes and associated outcome measurement instruments. Outcomes were organized into domains within five a priori core areas: life impact, pathophysiological manifestations, growth and development, resource use, and death. We conducted descriptive analyses at the study level, grouping articles arising from the same study.
Results: From 2593 unique citations, 73 articles from 61 unique studies were included in the review, pertaining to all MPS subtypes except for exceptionally rare subtypes. Eighty-four unique outcomes were reported across the studies, 33 (39%) of which were reported by three or fewer studies. Most outcomes (55; 65%) were in the pathophysiological manifestations core area, followed by life impact (17; 20%) and growth and development (10; 12%); one outcome each pertained to resource use and death. The most frequently reported outcomes were general adverse events (45; 74%), immune-related adverse events (39; 64%), and urinary glycosaminoglycans (38; 62%). Substantial variability existed in the reporting of outcome measurement instruments. Some differences in outcome reporting were observed by MPS subtype and publication year.
Discussion: Outcomes reported in clinical trials and guidelines for MPS in children and youth vary considerably and largely focus on pathophysiological manifestations. A COS is needed to standardize the selection and measurement of meaningful outcomes across future studies. We will present the outcomes identified in this review to knowledge users as part of a consensus process to select the most critical outcomes for inclusion in the COS. Trial Registration The protocol for this study was registered in PROSPERO (CRD42021267531) and in the COMET Database.
(© 2024. The Author(s).)
Databáze: MEDLINE
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