Evidence map›Paper›PMID 34266901›Full record

ArticlePediatrics2021

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

Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Pranesh Chakraborty, Michael T Geraghty, Julie K Irwin, John J Mitchell, Sylvia Stockler and 32 more

Abstract readConsensus Statement
PubMed Publisher
In one paragraph

Article in Pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 4 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 4 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

16 citing papers in PubMed, 4 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  3. Pooled it
  4. Pooled it
  5. Article
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  12. A framework for evaluating long-term impact of newborn screening.European journal of human genetics : EJHG · 2024
    Article
  13. Article
  14. Review
  15. Article
  16. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

42 authors.

Michael PuglieseSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Kylie TingleySchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Andrea ChowSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Nicole PallonePatient partner, Canadian Organization for Rare Disorders, Toronto, Canada.
Maureen SmithNewborn Screening Ontario, Ottawa, Canada.
Pranesh ChakrabortyDepartment of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Canada.
Michael T GeraghtyDivisions of Medical Genetics and Pediatric Endocrinology, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.
Julie K IrwinBiochemical Diseases, British Columbia Children's Hospital, Vancouver, Canada.
John J MitchellClinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Canada.
Sylvia StocklerDepartment of Pediatrics, University of Toronto, Toronto, Canada.
Stuart G NichollsChild Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada.
Martin OffringaDepartment of Psychiatry, University of Toronto, Toronto, Canada.
Alvi RahmanSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Laure A TessierDepartment of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Canada.
Nancy J ButcherDepartment of Pediatrics, Dalhousie University, Halifax, Canada.
Ryan IversonSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Monica LamoureuxDepartment of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Canada.
Tammy J CliffordSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Brian HuttonSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Karen PaikSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Jessica TaoDepartment of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
Becky SkidmoreChild Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada.
Doug CoyleSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Kathleen DuddyDepartment of Pediatrics, University of Toronto, Toronto, Canada.
Sarah DyackDepartment of Medical Genetics, University of Alberta, Edmonton, Canada.
Cheryl R GreenbergDepartment of Pediatrics, Western University, London, Canada.
Shailly Jain GhaiDepartments of Clinical Neurosciences, University of Calgary, Calgary, Canada.
Natalya KarpClinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada.
Lawrence KorngutChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
Jonathan KronickDepartment of Psychiatry, University of Toronto, Toronto, Canada.
Alex MacKenzieDivision of Metabolics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Jennifer MacKenzieDepartment of Pediatrics, McMaster University, Hamilton, Canada.
Bruno MarandaPathology and Molecular Medicine, McMaster University, Hamilton, Canada.
Murray PotterDepartment of Pediatrics, Université de Sherbrooke, Sherbrooke, Canada.
Chitra PrasadDepartments of Clinical Neurosciences, University of Calgary, Calgary, Canada.
Andreas SchulzeChild Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada.
Rebecca SparkesChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
Monica TaljaardSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Canada.
Yannis TrakadisMedical Genetics, and Pediatrics, University of Calgary, Calgary, Canada.
Jagdeep WaliaDepartment of Human Genetics, McGill University, Montreal, Canada.
Beth K Potter
Canadian Inherited Metabolic Diseases Research Network

Funding

CIHR 151614
6 · The paper itself

Abstract

backgroundEvidence 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.

methodsParents 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.

resultsThere 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.

conclusionsThese 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.

Indexed as

Outcome Assessment, Health CareAcyl-CoA DehydrogenaseChildChild, PreschoolHumansLipid Metabolism, Inborn ErrorsPhenylketonuriasAcyl-CoA Dehydrogenase

Identifiers

PMID34266901

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.