Evidence map›Paper›PMID 29258568›Full record

ArticleTrials2017

Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.

Beth K Potter, Brian Hutton, Tammy J Clifford, Nicole Pallone, Maureen Smith, Sylvia Stockler, Pranesh Chakraborty, Pauline Barbeau, Chantelle M Garritty, Michael Pugliese and 14 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Trials, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 26% of its field
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

7 citing papers in PubMed, 1 synthesis or guideline pooled it, 20 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Observational
  4. Review
  5. Article
  6. Review
  7. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors at 11 institutions in 1 country.

Beth K PotterSchool of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada. bpotter@uottawa.ca.
Brian HuttonSchool of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada.
Tammy J CliffordSchool of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada.
Nicole PallonePatient/family partner and Canadian PKU & Allied Disorders Inc, Sparwood, BC, Canada.
Maureen SmithPatient/family partner and Canadian Organization for Rare Disorders, Ottawa, ON, Canada.
Sylvia StocklerBC Children's Hospital and University of British Columbia, Vancouver, BC, Canada.
Pranesh ChakrabortyChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
Pauline BarbeauOttawa Hospital Research Institute, Ottawa, ON, Canada.
Chantelle M GarrittyOttawa Hospital Research Institute, Ottawa, ON, Canada.
Michael PuglieseSchool of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada.
Alvi RahmanSchool of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada.
Becky SkidmoreOttawa Hospital Research Institute, Ottawa, ON, Canada.
Laure TessierChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
Kylie TingleySchool of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada.
Doug CoyleSchool of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada.
Cheryl R GreenbergUniversity of Manitoba, Winnipeg, MB, Canada.
Lawrence KorngutDepartment of Clinical Neurosciences, University of Calgary, Calgary, AB, Canada.
Alex MacKenzieChildren's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.
John J MitchellMcGill University Health Centre, Montreal, QC, Canada.
Stuart NichollsClinical Research Unit, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.
Martin OffringaHospital for Sick Children and University of Toronto, Toronto, ON, Canada.
Andreas SchulzeHospital for Sick Children and University of Toronto, Toronto, ON, Canada.
Monica TaljaardSchool of Epidemiology and Public Health, University of Ottawa, 600 Peter Morand Drive, Ottawa, ON, K1G 5Z3, Canada.
Canadian Inherited Metabolic Diseases Research Network
University of Ottawa · CAChildren's Hospital of Eastern Ontario · CAOttawa Hospital · CAOttawa Hospital Research InstituteCanadian Agency for Drugs and Technologies in Health · CAMcGill University Health Centre · CASickKids Foundation · CAUniversity of British Columbia · CAUniversity of Calgary · CAUniversity of Manitoba · CAUniversity of Toronto · CA

Funding

Canadian Institutes of Health Research 151614
6 · The paper itself

Abstract

backgroundInherited metabolic diseases (IMD) are a large group of rare single-gene disorders that are typically diagnosed early in life. There are important evidence gaps related to the comparative effectiveness of therapies for IMD, which are in part due to challenges in conducting randomized controlled trials (RCTs) for rare diseases. Registry-based RCTs present a unique opportunity to address these challenges provided the registries implement standardized collection of outcomes that are important to patients and their caregivers and to clinical providers and healthcare systems. Currently there is no core outcome set (COS) for studies evaluating interventions for paediatric IMD. This protocol outlines a study that will establish COS for each of two relatively common IMD in children, phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.

methodsThis two-part study is registered with the Core Outcome Measures in Effectiveness Trials (COMET) initiative. Part 1 includes a rapid review and development of an evidence map to identify a comprehensive listing of outcomes reported in past studies of PKU and MCAD deficiency. The review follows established methods for knowledge synthesis, including a comprehensive search strategy, two stages of screening citations against inclusion/exclusion criteria by two reviewers working independently, and extraction of important data elements from eligible studies, including details of the outcomes collected and outcome measurement instruments. The review findings will inform part 2 of our study, a set of Delphi surveys to establish consensus on the highest priority outcomes for each condition. Healthcare providers, families of children with PKU or MCAD deficiency, and health system decision-makers will be invited to participate in two to three rounds of Delphi surveys. The design of the surveys will involve parents of children with IMD who are part of a family advisory forum. DISCUSSION: This protocol is a crucial step in developing the capacity to launch RCTs with meaningful outcomes that address comparative effectiveness questions in the field of paediatric IMD. Such trials will contribute high-quality evidence to inform decision-making by patients and their family members, clinicians, and policy-makers.

Indexed as

Acyl-CoA DehydrogenaseDelphi TechniqueEndpoint DeterminationLipid Metabolism, Inborn ErrorsPhenylketonuriasResearch DesignConsensusHumansRandomized Controlled Trials as TopicStakeholder ParticipationSystematic Reviews as TopicTreatment OutcomeAcyl-CoA DehydrogenaseCore outcome setDelphiInherited metabolic diseasesMCAD deficiencyPKURegistry-based randomized trials

Identifiers

PMID29258568
PMCPMC5735866
OpenAlexW2778678888

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.