Evidence map›Paper›PMID 32276663›Full record

ArticleOrphanet journal of rare diseases2020

Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.

Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T Geraghty, Jonathan B Kronick, Beth K Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin and 46 more

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

Article 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 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
1.8field-weighted citation impact, top 17% 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

8 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.

  1. The Minimum Data Set for Rare Diseases: Systematic Review.Journal of medical Internet research · 2023
    Pooled it
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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

56 authors at 20 institutions in 1 country.

Kylie TingleyUniversity of Ottawa, Ottawa, Ontario, Canada.
Monica LamoureuxNewborn Screening Ontario, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada.
Michael PuglieseUniversity of Ottawa, Ottawa, Ontario, Canada.
Michael T GeraghtyUniversity of Ottawa, Ottawa, Ontario, Canada.
Jonathan B KronickThe Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Beth K PotterUniversity of Ottawa, Ottawa, Ontario, Canada.
Doug CoyleUniversity of Ottawa, Ottawa, Ontario, Canada.
Kumanan WilsonUniversity of Ottawa, Ottawa, Ontario, Canada.
Michael KowalskiNewborn Screening Ontario, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada.
Valerie AustinThe Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Catherine Brunel-GuittonLe centre hospitalier universitaire Ste-Justine, Montreal, Quebec, Canada.
Daniela BuhasMontreal Children's Hospital, McGill University, Montreal, Quebec, Canada.
Alicia K J ChanStollery Children's Hospital, University of Alberta, Edmonton, Alberta, Canada.
Sarah DyackIWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada.
Annette FeigenbaumThe Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Alette GiezenBC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
Sharan GoobieIWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada.
Cheryl R GreenbergHealth Sciences Centre Winnipeg, University of Manitoba, Winnipeg, Manitoba, Canada.
Shailly Jain GhaiStollery Children's Hospital, University of Alberta, Edmonton, Alberta, Canada.
Michal Inbar-FeigenbergThe Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Natalya KarpLondon Health Sciences Centre, Western University, London, Ontario, Canada.
Mariya KozenkoHamilton Health Sciences Centre, McMaster University, Hamilton, Ontario, Canada.
Erica LangleyNewborn Screening Ontario, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada.
Matthew LinesNewborn Screening Ontario, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada.
Julian LittleUniversity of Ottawa, Ottawa, Ontario, Canada.
Jennifer MacKenzieHamilton Health Sciences Centre, McMaster University, Hamilton, Ontario, Canada.
Bruno MarandaLe centre hospitalier universitaire Sherbrooke, Sherbrooke, Quebec, Canada.
Saadet Mercimek-AndrewsThe Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Connie MohanAlberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada.
Aizeddin MhanniHealth Sciences Centre Winnipeg, University of Manitoba, Winnipeg, Manitoba, Canada.
Grant MitchellLe centre hospitalier universitaire Ste-Justine, Montreal, Quebec, Canada.
John J MitchellMontreal Children's Hospital, McGill University, Montreal, Quebec, Canada.
Laura NagyThe Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Melanie NapierLondon Health Sciences Centre, Western University, London, Ontario, Canada.
Amy PenderHamilton Health Sciences Centre, McMaster University, Hamilton, Ontario, Canada.
Murray PotterHamilton Health Sciences Centre, McMaster University, Hamilton, Ontario, Canada.
Chitra PrasadLondon Health Sciences Centre, Western University, London, Ontario, Canada.
Suzanne RatkoLondon Health Sciences Centre, Western University, London, Ontario, Canada.
Ramona SalvarinovaBC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
Andreas SchulzeThe Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Komudi SiriwardenaStollery Children's Hospital, University of Alberta, Edmonton, Alberta, Canada.
Neal SondheimerThe Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Rebecca SparkesAlberta Children's Hospital, University of Calgary, Calgary, Alberta, Canada.
Sylvia Stockler-IpsirogluBC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
Yannis TrakadisMontreal Children's Hospital, McGill University, Montreal, Quebec, Canada.
Lesley TurnerJaneway Children's Hospital, Memorial University, St John's, NL, Canada.
Clara Van KarnebeekBC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
Hilary VallanceBC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
Anthony VandersteenIWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada.
Jagdeep WaliaKingston General Hospital, Queen's University, Kingston, Ontario, Canada.
Ashley WilsonThe Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Brenda J WilsonJaneway Children's Hospital, Memorial University, St John's, NL, Canada.
Andrea C YuLondon Health Sciences Centre, Western University, London, Ontario, Canada.
Nataliya YuskivBC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada.
Pranesh ChakrabortyUniversity of Ottawa, Ottawa, Ontario, Canada. pchakraborty@cheo.on.ca.
Canadian Inherited Metabolic Diseases Research Network
University of Ottawa · CASickKids Foundation · CANewborn Screening Ontario · CAWestern University · CABC Children's Hospital · CAHamilton Health Sciences · CAMcGill University · CAUniversity of British Columbia · CAUniversity of Toronto · CACentre Hospitalier Universitaire Sainte-Justine · CADalhousie University · CAJaneway Children's Health and Rehabilitation Centre · CAUniversity of Alberta · CAUniversity of Calgary · CAUniversity of Manitoba · CACentre Hospitalier Universitaire de Sherbrooke · CAChildren's Hospital of Eastern Ontario · CAHealth Sciences Centre · CAHospital for Sick Children · CAIzaak Walton Killam Health Centre · CA

Funding

CIHR TR3-119195
6 · The paper itself

Abstract

backgroundThe Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims to develop evidence to improve health outcomes for children with inherited metabolic diseases (IMD). We describe the development of our clinical data collection platform, discuss our data quality management plan, and present the findings to date from our data quality assessment, highlighting key lessons that can serve as a resource for future clinical research initiatives relating to rare diseases.

methodsAt participating centres, children born from 2006 to 2015 who were diagnosed with one of 31 targeted IMD were eligible to participate in CIMDRN's clinical research stream. For all participants, we collected a minimum data set that includes information about demographics and diagnosis. For children with five prioritized IMD, we collected longitudinal data including interventions, clinical outcomes, and indicators of disease management. The data quality management plan included: design of user-friendly and intuitive clinical data collection forms; validation measures at point of data entry, designed to minimize data entry errors; regular communications with each CIMDRN site; and routine review of aggregate data.

resultsAs of June 2019, CIMDRN has enrolled 798 participants of whom 764 (96%) have complete minimum data set information. Results from our data quality assessment revealed that potential data quality issues were related to interpretation of definitions of some variables, participants who transferred care across institutions, and the organization of information within the patient charts (e.g., neuropsychological test results). Little information was missing regarding disease ascertainment and diagnosis (e.g., ascertainment method - 0% missing). DISCUSSION: Using several data quality management strategies, we have established a comprehensive clinical database that provides information about care and outcomes for Canadian children affected by IMD. We describe quality issues and lessons for consideration in future clinical research initiatives for rare diseases, including accurately accommodating different clinic workflows and balancing comprehensiveness of data collection with available resources. Integrating data collection within clinical care, leveraging electronic medical records, and implementing core outcome sets will be essential for achieving sustainability.

Indexed as

Metabolic DiseasesCanadaChildCohort StudiesData CollectionHumansResearch DesignDatabaseData qualityInherited metabolic diseasesObservational researchRegistry scienceSustainability

Identifiers

PMID32276663
PMCPMC7149838
OpenAlexW3016105827

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.