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
Creators: name: Tingley, Kylie
name: Lamoureux, Monica
name: Pugliese, Michael
name: Geraghty, Michael T.
name: Kronick, Jonathan B.
name: Potter, Beth K.
name: Coyle, Doug
name: Wilson, Kumanan
name: Kowalski, Michael
name: Austin, Valerie
name: Brunel-Guitton, Catherine
name: Buhas, Daniela
name: Chan, Alicia K. J.
name: Dyack, Sarah
name: Feigenbaum, Annette
name: Giezen, Alette
name: Goobie, Sharan
name: Greenberg, Cheryl R.
name: Ghai, Shailly J.
name: Inbar-Feigenberg, Michal
name: Karp, Natalya
name: Kozenko, Mariya
name: Langley, Erica
name: Lines, Matthew
name: Little, Julian
name: MacKenzie, Jennifer
name: Maranda, Bruno
name: Mercimek-Andrews, Saadet
name: Mohan, Connie
name: Mhanni, Aizeddin
name: Mitchell, Grant
name: Mitchell, John J.
name: Nagy, Laura
name: Napier, Melanie
name: Pender, Amy
name: Potter, Murray
name: Prasad, Chitra
name: Ratko, Suzanne
name: Salvarinova, Ramona
name: Schulze, Andreas
name: Siriwardena, Komudi
name: Sondheimer, Neal
name: Sparkes, Rebecca
name: Stockler, Sylvia
name: Trakadis, Yannis
name: Turner, Lesley
name: Van Karnebeek, Clara
name: Vallance, Hilary
name: Vandersteen, Anthony
name: Walia, Jagdeep
name: Wilson, Ashley
name: Wilson, Brenda J.
name: Yu, Andrea C.
name: Yuskiv, Nataliya
name: Chakraborty, Pranesh
Publisher: name: BioMed Central
Year: 2020

description: 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.