Evidence map›Paper›PMID 31937333›Full record

ReviewOrphanet journal of rare diseases2020

Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.

Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Alvi Rahman, Pranesh Chakraborty, Michael T Geraghty, Julie Irwin, Laure Tessier and 31 more

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

Review in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed, 1 pooled it
3.0field-weighted citation impact, top 9% 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

11 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. Article
  4. Article
  5. Review
  6. Review
  7. Observational
  8. Target Diseases for Neonatal Screening in Germany.Deutsches Arzteblatt international · 2022
    Review
  9. Article
  10. Review
  11. Article
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

41 authors at 16 institutions in 1 country.

Michael PuglieseSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Kylie TingleySchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Andrea ChowSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Nicole PalloneCanadian PKU & Allied Disorders Inc., Sparwood, Canada.
Maureen SmithCanadian Organization for Rare Disorders, Ottawa, Canada.
Alvi RahmanSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Pranesh ChakrabortyNewborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Michael T GeraghtyDivision of Metabolics and Newborn Screening, Pediatrics, Children's Hospital of Eastern Ontario and University of Ottawa, Ottawa, Canada.
Julie IrwinAmbulatory Care, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Laure TessierNewborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.
Stuart G NichollsClinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Canada.
Martin OffringaDepartment of Pediatrics, University of Toronto, Toronto, Canada.
Nancy J ButcherChild Health Evaluative Sciences, The Hospital for Sick Children Research Institute, Toronto, Canada.
Ryan IversonSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Tammy J CliffordSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Sylvia StocklerBiochemical Diseases, BC Children's Hospital, Vancouver, Canada.
Brian HuttonSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Karen PaikSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Jessica TaoFaculty of Medicine, University of Ottawa, Ottawa, Canada.
Becky SkidmoreClinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Canada.
Doug CoyleSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Kathleen DuddyBiochemical Diseases, BC Children's Hospital, Vancouver, Canada.
Sarah DyackDivision of Medical Genetics, IWK Health Centre, Halifax, Canada.
Cheryl R GreenbergDepartment of Pediatrics and Child Health, University of Manitoba, Winnipeg, Canada.
Shailly Jain GhaiDepartment of Medical Genetics, University of Alberta, Edmonton, Canada.
Natalya KarpDepartment of Pediatrics, Western University, London, Canada.
Lawrence KorngutDepartment of Clinical Neurosciences, University of Calgary, Calgary, Canada.
Jonathan KronickDepartment of Pediatrics, University of Toronto, Toronto, Canada.
Alex MacKenzieChildren's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
Jennifer MacKenzieDepartment of Pediatrics, McMaster University, Hamilton, Canada.
Bruno MarandaDepartment of Pediatrics, Université de Sherbrooke, Sherbrooke, Canada.
John J MitchellHuman Genetics and Pediatrics, McGill University, Montreal, Canada.
Murray PotterPathology and Molecular Medicine, McMaster University, Hamilton, Canada.
Chitra PrasadDepartment of Pediatrics, Western University, London, Canada.
Andreas SchulzeDepartment of Pediatrics, University of Toronto, Toronto, Canada.
Rebecca SparkesMedical Genetics and Pediatrics, University of Calgary, Calgary, Canada.
Monica TaljaardSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.
Yannis TrakadisHuman Genetics and Medical Genetics, McGill University Health Centre, Montreal, Canada.
Jagdeep WaliaDepartment of Pediatrics, Queen's University, Kingston, Canada.
Beth K PotterSchool of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada. bpotter@uottawa.com.ORCID 0000-0001-8374-6542
Canadian Inherited Metabolic Diseases Research Network
University of Ottawa · CAChildren's Hospital of Eastern Ontario · CAUniversity of Toronto · CABC Children's Hospital · CAMcMaster University · CAOttawa Hospital · CAUniversity of Calgary · CAWestern University · CAHospital for Sick Children · CAIzaak Walton Killam Health Centre · CAMcGill University · CAMcGill University Health Centre · CAQueen's University · CAUniversité de Sherbrooke · CAUniversity of Alberta · CAUniversity of Manitoba · CA

Funding

CIHR 151614
6 · The paper itself

Abstract

backgroundInherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions. Clinical effectiveness trials of IMD interventions could be supported through the development of core outcome sets (COSs), a recommended minimum set of standardized, high-quality outcomes and associated outcome measurement instruments to be incorporated by all trials in an area of study. We began the process of establishing pediatric COSs for two IMDs, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU), by reviewing published literature to describe outcomes reported by authors, identify heterogeneity in outcomes across studies, and assemble a candidate list of outcomes.

methodsWe used a comprehensive search strategy to identify primary studies and guidelines relevant to children with MCAD deficiency and PKU, extracting study characteristics and outcome information from eligible studies including outcome measurement instruments for select outcomes. Informed by an established framework and a previously published pediatric COS, outcomes were grouped into five, mutually-exclusive, a priori core areas: growth and development, life impact, pathophysiological manifestations, resource use, and death.

resultsFor MCAD deficiency, we identified 83 outcomes from 52 articles. The most frequently represented core area was pathophysiological manifestations, with 33 outcomes reported in 29/52 articles (56%). Death was the most frequently reported outcome. One-third of outcomes were reported by a single study. The most diversely measured outcome was cognition and intelligence/IQ for which eight unique measurement instruments were reported among 14 articles. For PKU, we identified 97 outcomes from 343 articles. The most frequently represented core area was pathophysiological manifestations with 31 outcomes reported in 281/343 articles (82%). Phenylalanine concentration was the most frequently reported outcome. Sixteen percent of outcomes were reported by a single study. Similar to MCAD deficiency, the most diversely measured PKU outcome was cognition and intelligence/IQ with 39 different instruments reported among 82 articles.

conclusionsHeterogeneity of reported outcomes and outcome measurement instruments across published studies for both MCAD deficiency and PKU highlights the need for COSs for these diseases, to promote the use of meaningful outcomes and facilitate comparisons across studies.

Indexed as

Acyl-CoA DehydrogenaseHumansLipid Metabolism, Inborn ErrorsPhenylketonuriasRare DiseasesAcyl-CoA DehydrogenaseCore outcome setsMCAD deficiencyPatient-oriented outcomesPKURare diseases

Identifiers

PMID31937333
PMCPMC6961328
OpenAlexW3002669956

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.