Core outcome sets for medium-chain Acyl-CoA Dehydrogenase deficiency and phenylketonuria

Canadian Inherited Metabolic Diseases Research Network

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)

Abstract

BACKGROUND: Evidence to guide treatment of pediatric medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency and phenylketonuria (PKU) is fragmented because of large variability in outcome selection and measurement. Our goal was to develop core outcome sets (COSs) for these diseases to facilitate meaningful future evidence generation and enhance the capacity to compare and synthesize findings across studies. METHODS: Parents and/or caregivers, health professionals, and health policy advisors completed a Delphi survey and participated in a consensus workshop to select core outcomes from candidate lists of outcomes for MCAD deficiency and PKU. Delphi participants rated the importance of outcomes on a nine-point scale (1–3: not important, 4–6: important but not critical, 7–9: critical). Candidate outcomes were progressively narrowed down over 3 survey rounds. At the workshop, participants evaluated the remaining candidate outcomes using an adapted nominal technique, open discussion, and voting. After the workshop, we finalized the COSs and recommended measurement instruments for each outcome. RESULTS: There were 85, 61, and 53 participants across 3 Delphi rounds, respectively. The candidate core outcome lists were narrowed down to 20 outcomes per disease to be discussed at the consensus workshop. Voting by 18 workshop participants led to COSs composed of 8 and 9 outcomes for MCAD deficiency and PKU, respectively, with measurement recommendations. CONCLUSIONS: These are the first known pediatric COSs for MCAD deficiency and PKU. Adoption in future studies will help to ensure best use of limited research resources to ultimately improve care for children with these rare diseases.

Original languageEnglish
Article numbere2020037747
JournalPediatrics
Volume148
Issue number2
DOIs
Publication statusPublished - Aug 1 2021

Bibliographical note

Funding Information:
FUNDING: Funded by the Canadian Institutes of Health Research (grant 151614). The views expressed in this article are those of the authors and do not necessarily reflect those of the Canadian Institutes of Health Research or the Government of Canada.

Funding Information:
We thank the members of the FAF, who contributed their expertise through lived experience to all aspects of this study. We also thank all participants in the Delphi survey and those who participated in the consensus workshop. We also thank all investigators that belong to the Canadian Inherited Metabolic Diseases Research Network who participated in foundational work that led to this study. Funded by the Canadian Institutes of Health Research (grant 151614). The views expressed in this article are those of the authors and do not necessarily reflect those of the Canadian Institutes of Health Research or the Government of Canada.

Publisher Copyright:
Copyright © 2021 by the American Academy of Pediatrics

ASJC Scopus Subject Areas

  • Pediatrics, Perinatology, and Child Health

PubMed: MeSH publication types

  • Consensus Development Conference
  • Journal Article
  • Research Support, Non-U.S. Gov't

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