Orphanet Journal of Rare Diseases (Apr 2020)
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,
- Catherine Brunel-Guitton,
- Daniela Buhas,
- Alicia K. J. Chan,
- Sarah Dyack,
- Annette Feigenbaum,
- Alette Giezen,
- Sharan Goobie,
- Cheryl R. Greenberg,
- Shailly Jain Ghai,
- Michal Inbar-Feigenberg,
- Natalya Karp,
- Mariya Kozenko,
- Erica Langley,
- Matthew Lines,
- Julian Little,
- Jennifer MacKenzie,
- Bruno Maranda,
- Saadet Mercimek-Andrews,
- Connie Mohan,
- Aizeddin Mhanni,
- Grant Mitchell,
- John J. Mitchell,
- Laura Nagy,
- Melanie Napier,
- Amy Pender,
- Murray Potter,
- Chitra Prasad,
- Suzanne Ratko,
- Ramona Salvarinova,
- Andreas Schulze,
- Komudi Siriwardena,
- Neal Sondheimer,
- Rebecca Sparkes,
- Sylvia Stockler-Ipsiroglu,
- Yannis Trakadis,
- Lesley Turner,
- Clara Van Karnebeek,
- Hilary Vallance,
- Anthony Vandersteen,
- Jagdeep Walia,
- Ashley Wilson,
- Brenda J. Wilson,
- Andrea C. Yu,
- Nataliya Yuskiv,
- Pranesh Chakraborty,
- on behalf of the Canadian Inherited Metabolic Diseases Research Network
Affiliations
- Kylie Tingley
- University of Ottawa
- Monica Lamoureux
- Newborn Screening Ontario, Children’s Hospital of Eastern Ontario
- Michael Pugliese
- University of Ottawa
- Michael T. Geraghty
- University of Ottawa
- Jonathan B. Kronick
- The Hospital for Sick Children, University of Toronto
- Beth K. Potter
- University of Ottawa
- Doug Coyle
- University of Ottawa
- Kumanan Wilson
- University of Ottawa
- Michael Kowalski
- Newborn Screening Ontario, Children’s Hospital of Eastern Ontario
- Valerie Austin
- The Hospital for Sick Children, University of Toronto
- Catherine Brunel-Guitton
- Le centre hospitalier universitaire Ste-Justine
- Daniela Buhas
- Montreal Children’s Hospital, McGill University
- Alicia K. J. Chan
- Stollery Children’s Hospital, University of Alberta
- Sarah Dyack
- IWK Health Centre, Dalhousie University
- Annette Feigenbaum
- The Hospital for Sick Children, University of Toronto
- Alette Giezen
- BC Children’s Hospital, University of British Columbia
- Sharan Goobie
- IWK Health Centre, Dalhousie University
- Cheryl R. Greenberg
- Health Sciences Centre Winnipeg, University of Manitoba
- Shailly Jain Ghai
- Stollery Children’s Hospital, University of Alberta
- Michal Inbar-Feigenberg
- The Hospital for Sick Children, University of Toronto
- Natalya Karp
- London Health Sciences Centre, Western University
- Mariya Kozenko
- Hamilton Health Sciences Centre, McMaster University
- Erica Langley
- Newborn Screening Ontario, Children’s Hospital of Eastern Ontario
- Matthew Lines
- Newborn Screening Ontario, Children’s Hospital of Eastern Ontario
- Julian Little
- University of Ottawa
- Jennifer MacKenzie
- Hamilton Health Sciences Centre, McMaster University
- Bruno Maranda
- Le centre hospitalier universitaire Sherbrooke
- Saadet Mercimek-Andrews
- The Hospital for Sick Children, University of Toronto
- Connie Mohan
- Alberta Children’s Hospital, University of Calgary
- Aizeddin Mhanni
- Health Sciences Centre Winnipeg, University of Manitoba
- Grant Mitchell
- Le centre hospitalier universitaire Ste-Justine
- John J. Mitchell
- Montreal Children’s Hospital, McGill University
- Laura Nagy
- The Hospital for Sick Children, University of Toronto
- Melanie Napier
- London Health Sciences Centre, Western University
- Amy Pender
- Hamilton Health Sciences Centre, McMaster University
- Murray Potter
- Hamilton Health Sciences Centre, McMaster University
- Chitra Prasad
- London Health Sciences Centre, Western University
- Suzanne Ratko
- London Health Sciences Centre, Western University
- Ramona Salvarinova
- BC Children’s Hospital, University of British Columbia
- Andreas Schulze
- The Hospital for Sick Children, University of Toronto
- Komudi Siriwardena
- Stollery Children’s Hospital, University of Alberta
- Neal Sondheimer
- The Hospital for Sick Children, University of Toronto
- Rebecca Sparkes
- Alberta Children’s Hospital, University of Calgary
- Sylvia Stockler-Ipsiroglu
- BC Children’s Hospital, University of British Columbia
- Yannis Trakadis
- Montreal Children’s Hospital, McGill University
- Lesley Turner
- Janeway Children’s Hospital, Memorial University
- Clara Van Karnebeek
- BC Children’s Hospital, University of British Columbia
- Hilary Vallance
- BC Children’s Hospital, University of British Columbia
- Anthony Vandersteen
- IWK Health Centre, Dalhousie University
- Jagdeep Walia
- Kingston General Hospital, Queen’s University
- Ashley Wilson
- The Hospital for Sick Children, University of Toronto
- Brenda J. Wilson
- Janeway Children’s Hospital, Memorial University
- Andrea C. Yu
- London Health Sciences Centre, Western University
- Nataliya Yuskiv
- BC Children’s Hospital, University of British Columbia
- Pranesh Chakraborty
- University of Ottawa
- on behalf of the Canadian Inherited Metabolic Diseases Research Network
- DOI
- https://doi.org/10.1186/s13023-020-01358-z
- Journal volume & issue
-
Vol. 15,
no. 1
pp. 1 – 12
Abstract
Abstract 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.
Keywords
- Inherited metabolic diseases
- Observational research
- Registry science
- Data quality
- Database
- Sustainability
