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

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dc.contributor.authorHowie, Alison H.
dc.contributor.authorTingley, Kylie
dc.contributor.authorInbar-Feigenberg, Michal
dc.contributor.authorMitchell, John J.
dc.contributor.authorAngel, Kim
dc.contributor.authorGentle, Jenifer
dc.contributor.authorSmith, Maureen
dc.contributor.authorOffringa, Martin
dc.contributor.authorButcher, Nancy J.
dc.contributor.authorCampeau, Philippe M.
dc.contributor.authorChakraborty, Pranesh
dc.contributor.authorChan, Alicia
dc.contributor.authorFergusson, Dean
dc.contributor.authorMamak, Eva
dc.contributor.authorMcClelland, Peyton
dc.contributor.authorMercimek-Andrews, Saadet
dc.contributor.authorMhanni, Aizeddin
dc.contributor.authorMoazin, Zeinab
dc.contributor.authorRockman-Greenberg, Cheryl
dc.contributor.authorRupar, C. A.
dc.contributor.authorSkidmore, Becky
dc.contributor.authorStockler, Sylvia
dc.contributor.authorThavorn, Kednapa
dc.contributor.authorWyatt, Alexandra
dc.contributor.authorPotter, Beth K.
dc.date.accessioned2024-11-18T21:22:19Z
dc.date.available2024-11-18T21:22:19Z
dc.date.issued2024-10-23
dc.date.updated2024-11-01T04:30:58Z
dc.description.abstractAbstract 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.
dc.identifier.citationOrphanet Journal of Rare Diseases. 2024 Oct 23;19(1):393
dc.identifier.doi10.1186/s13023-024-03364-x
dc.identifier.urihttp://hdl.handle.net/1993/38671
dc.language.isoeng
dc.language.rfc3066en
dc.publisherBMC
dc.rights.holderThe Author(s)
dc.subjectMucopolysaccharidosis
dc.subjectCore outcome set
dc.subjectOutcomes
dc.titleReview of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement
dc.typeJournal Article
local.author.affiliationRady Faculty of Health Sciences::Max Rady College of Medicine::Department of Pediatrics and Child Health
oaire.citation.issue393
oaire.citation.titleOrphanet Journal of Rare Diseases
oaire.citation.volume19
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