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
Open Access
- 10 April 2020
- journal article
- research article
- Published by Springer Science and Business Media LLC in Orphanet Journal of Rare Diseases
- Vol. 15 (1), 1-12
- https://doi.org/10.1186/s13023-020-01358-z
Abstract
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. 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. 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). 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.Keywords
Funding Information
- Canadian Institutes of Health Research (TR3-119195)
This publication has 30 references indexed in Scilit:
- Clinical Trials in Rare DiseaseJournal of Child Neurology, 2013
- Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence frameworkGenetics in Medicine, 2013
- President's address: Research and development on computer-based testing and extension of clinical skill examination to a variety of fieldsJournal of Educational Evaluation for Health Professions, 2013
- Developing core outcome sets for clinical trials: issues to considerTrials, 2012
- Inborn Errors of MetabolismPublished by Springer Science and Business Media LLC ,2012
- Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders ConsortiumMolecular Genetics and Metabolism, 2010
- The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 WorkgroupGenetics in Medicine, 2010
- Research electronic data capture (REDCap)—A metadata-driven methodology and workflow process for providing translational research informatics supportJournal of Biomedical Informatics, 2008
- Why rare diseases are an important medical and social issueThe Lancet, 2008
- The double-blind, randomized, placebo-controlled trial: Gold standard or golden calf?Journal of Clinical Epidemiology, 2001