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

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dc.contributor.authorTingley, Kylie
dc.contributor.authorLamoureux, Monica
dc.contributor.authorPugliese, Michael
dc.contributor.authorGeraghty, Michael T
dc.contributor.authorKronick, Jonathan B
dc.contributor.authorPotter, Beth K
dc.contributor.authorCoyle, Doug
dc.contributor.authorWilson, Kumanan
dc.contributor.authorKowalski, Michael
dc.contributor.authorAustin, Valerie
dc.contributor.authorBrunel-Guitton, Catherine
dc.contributor.authorBuhas, Daniela
dc.contributor.authorChan, Alicia K J
dc.contributor.authorDyack, Sarah
dc.contributor.authorFeigenbaum, Annette
dc.contributor.authorGiezen, Alette
dc.contributor.authorGoobie, Sharan
dc.contributor.authorGreenberg, Cheryl R
dc.contributor.authorGhai, Shailly J
dc.contributor.authorInbar-Feigenberg, Michal
dc.contributor.authorKarp, Natalya
dc.contributor.authorKozenko, Mariya
dc.contributor.authorLangley, Erica
dc.contributor.authorLines, Matthew
dc.contributor.authorLittle, Julian
dc.contributor.authorMacKenzie, Jennifer
dc.contributor.authorMaranda, Bruno
dc.contributor.authorMercimek-Andrews, Saadet
dc.contributor.authorMohan, Connie
dc.contributor.authorMhanni, Aizeddin
dc.contributor.authorMitchell, Grant
dc.contributor.authorMitchell, John J
dc.contributor.authorNagy, Laura
dc.contributor.authorNapier, Melanie
dc.contributor.authorPender, Amy
dc.contributor.authorPotter, Murray
dc.contributor.authorPrasad, Chitra
dc.contributor.authorRatko, Suzanne
dc.contributor.authorSalvarinova, Ramona
dc.contributor.authorSchulze, Andreas
dc.contributor.authorSiriwardena, Komudi
dc.contributor.authorSondheimer, Neal
dc.contributor.authorSparkes, Rebecca
dc.contributor.authorStockler-Ipsiroglu, Sylvia
dc.contributor.authorTrakadis, Yannis
dc.contributor.authorTurner, Lesley
dc.contributor.authorVan Karnebeek, Clara
dc.contributor.authorVallance, Hilary
dc.contributor.authorVandersteen, Anthony
dc.contributor.authorWalia, Jagdeep
dc.contributor.authorWilson, Ashley
dc.contributor.authorWilson, Brenda J
dc.contributor.authorYu, Andrea C
dc.contributor.authorYuskiv, Nataliya
dc.contributor.authorChakraborty, Pranesh
dc.date.accessioned2020-04-12T00:03:43Z
dc.date.available2020-04-12T00:03:43Z
dc.date.issued2020-04-10
dc.date.updated2020-04-12T00:03:43Z
dc.description.abstractAbstract Background The 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. Methods At 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. Results As 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.
dc.identifier.citationOrphanet Journal of Rare Diseases. 2020 Apr 10;15(1):89
dc.identifier.doihttps://doi.org/10.1186/s13023-020-01358-z
dc.identifier.urihttp://hdl.handle.net/1880/111790
dc.identifier.urihttps://doi.org/10.11575/PRISM/44457
dc.language.rfc3066en
dc.rights.holderThe Author(s)
dc.titleEvaluation 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
dc.typeJournal Article
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