Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria.

Acyl-CoA Dehydrogenase / deficiency Child Child, Preschool Humans Lipid Metabolism, Inborn Errors / therapy Outcome Assessment, Health Care Phenylketonurias / therapy

Journal

Pediatrics
ISSN: 1098-4275
Titre abrégé: Pediatrics
Pays: United States
ID NLM: 0376422

Informations de publication

Date de publication:
08 2021
Historique:
accepted: 22 03 2021
pubmed: 17 7 2021
medline: 4 1 2022
entrez: 16 7 2021
Statut: ppublish

Résumé

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. 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. 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. 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.

Sections du résumé

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.

Identifiants

DOI: 10.1542/peds.2020-037747 PMID: 34266901
pubmed: 34266901
pii: peds.2020-037747
doi: 10.1542/peds.2020-037747
pii:
doi:

Substances chimiques

Acyl-CoA Dehydrogenase EC 1.3.8.7

Types de publication

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

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : CIHR
ID : 151614
Pays : Canada

Commentaires et corrections

Type : CommentIn

Informations de copyright

Copyright © 2021 by the American Academy of Pediatrics.

Déclaration de conflit d'intérêts

POTENTIAL CONFLICT OF INTEREST: Dr Dyack has been on expert panels and committees funded by Genzyme and Horizon Therapeutics and contributed to a survey for MD Analytics. Dr Mitchell has received funding from Biomarin for clinical support, speaker fees, and conference support; the other authors have indicated they have no potential conflicts of interest to disclose.

Auteurs

Michael Pugliese (M)

School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.

Kylie Tingley (K)

School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.

Andrea Chow (A)

School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.

Nicole Pallone (N)

Patient partner, Canadian Organization for Rare Disorders, Toronto, Canada.

Maureen Smith (M)

Newborn Screening Ontario, Ottawa, Canada.

Pranesh Chakraborty (P)

Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Canada.
Divisions of Medical Genetics and Pediatric Endocrinology, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

Michael T Geraghty (MT)

Divisions of Medical Genetics and Pediatric Endocrinology, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

Julie K Irwin (JK)

Biochemical Diseases, British Columbia Children's Hospital, Vancouver, Canada.

John J Mitchell (JJ)

Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Canada.

Sylvia Stockler (S)

Department of Pediatrics, University of Toronto, Toronto, Canada.

Stuart G Nicholls (SG)

Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada.

Martin Offringa (M)

Department of Psychiatry, University of Toronto, Toronto, Canada.
Department of Pediatrics, Dalhousie University, Halifax, Canada.

Alvi Rahman (A)

School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.

Laure A Tessier (LA)

Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Canada.

Nancy J Butcher (NJ)

Department of Pediatrics, Dalhousie University, Halifax, Canada.
Patient partner, Canadian Phenylketonuria & Allied Disorders Inc, Toronto, Canada.

Ryan Iverson (R)

School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.

Monica Lamoureux (M)

Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Canada.

Tammy J Clifford (TJ)

School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.

Brian Hutton (B)

School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada.

Karen Paik (K)

School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.

Jessica Tao (J)

Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.

Becky Skidmore (B)

Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada.

Doug Coyle (D)

School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.

Kathleen Duddy (K)

Department of Pediatrics, University of Toronto, Toronto, Canada.

Sarah Dyack (S)

Department of Medical Genetics, University of Alberta, Edmonton, Canada.

Cheryl R Greenberg (CR)

Department of Pediatrics, Western University, London, Canada.

Shailly Jain Ghai (S)

Departments of Clinical Neurosciences, University of Calgary, Calgary, Canada.

Natalya Karp (N)

Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada.

Lawrence Korngut (L)

Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.

Jonathan Kronick (J)

Department of Psychiatry, University of Toronto, Toronto, Canada.
Department of Pediatrics, Dalhousie University, Halifax, Canada.

Alex MacKenzie (A)

Division of Metabolics, Children's Hospital of Eastern Ontario, Ottawa, Canada.

Jennifer MacKenzie (J)

Department of Pediatrics, McMaster University, Hamilton, Canada.

Bruno Maranda (B)

Pathology and Molecular Medicine, McMaster University, Hamilton, Canada.

Murray Potter (M)

Department of Pediatrics, Université de Sherbrooke, Sherbrooke, Canada.

Chitra Prasad (C)

Departments of Clinical Neurosciences, University of Calgary, Calgary, Canada.

Andreas Schulze (A)

Child Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada.
Faculty of Medicine, University of Ottawa, Ottawa, Canada.

Rebecca Sparkes (R)

Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.

Monica Taljaard (M)

School of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Canada.

Yannis Trakadis (Y)

Medical Genetics, and Pediatrics, University of Calgary, Calgary, Canada.

Jagdeep Walia (J)

Department of Human Genetics, McGill University, Montreal, Canada.

Beth K Potter (BK)

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Flavoprotéines › Acyl-CoA dehydrogenase › Core Outcome Sets for Medium-Chain Acyl-CoA...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Core Outcome Sets for Medium-Chain Acyl-CoA...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Core Outcome Sets for Medium-Chain Acyl-CoA...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Core Outcome Sets for Medium-Chain Acyl-CoA...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Erreurs innées du métabolisme lipidique › Core Outcome Sets for Medium-Chain Acyl-CoA...
questionsmedicales.fr › Qualité, accès, évaluation des soins de santé › Qualité des soins de santé › Mécanismes d'évaluation des soins de santé › Évaluation des résultats et des processus en soins de santé › Évaluation de résultat (soins) › Core Outcome Sets for Medium-Chain Acyl-CoA...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Encéphalopathies métaboliques congénitales › Phénylcétonuries › Core Outcome Sets for Medium-Chain Acyl-CoA...