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
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 inher...
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2020-04-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-020-01358-z |
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doaj-4dd97f1f0f9c499290bec8147590f10e |
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| record_format |
Article |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
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 |
| spellingShingle |
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 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 Orphanet Journal of Rare Diseases Inherited metabolic diseases Observational research Registry science Data quality Database Sustainability |
| author_facet |
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 |
| author_sort |
Kylie Tingley |
| title |
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 |
| title_short |
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 |
| title_full |
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 |
| title_fullStr |
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 |
| title_full_unstemmed |
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 |
| title_sort |
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 |
| publisher |
BMC |
| series |
Orphanet Journal of Rare Diseases |
| issn |
1750-1172 |
| publishDate |
2020-04-01 |
| description |
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. |
| topic |
Inherited metabolic diseases Observational research Registry science Data quality Database Sustainability |
| url |
http://link.springer.com/article/10.1186/s13023-020-01358-z |
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doaj-4dd97f1f0f9c499290bec8147590f10e2020-11-25T02:04:13ZengBMCOrphanet Journal of Rare Diseases1750-11722020-04-0115111210.1186/s13023-020-01358-zEvaluation 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 NetworkKylie Tingley0Monica Lamoureux1Michael Pugliese2Michael T. Geraghty3Jonathan B. Kronick4Beth K. Potter5Doug Coyle6Kumanan Wilson7Michael Kowalski8Valerie Austin9Catherine Brunel-Guitton10Daniela Buhas11Alicia K. J. Chan12Sarah Dyack13Annette Feigenbaum14Alette Giezen15Sharan Goobie16Cheryl R. Greenberg17Shailly Jain Ghai18Michal Inbar-Feigenberg19Natalya Karp20Mariya Kozenko21Erica Langley22Matthew Lines23Julian Little24Jennifer MacKenzie25Bruno Maranda26Saadet Mercimek-Andrews27Connie Mohan28Aizeddin Mhanni29Grant Mitchell30John J. Mitchell31Laura Nagy32Melanie Napier33Amy Pender34Murray Potter35Chitra Prasad36Suzanne Ratko37Ramona Salvarinova38Andreas Schulze39Komudi Siriwardena40Neal Sondheimer41Rebecca Sparkes42Sylvia Stockler-Ipsiroglu43Yannis Trakadis44Lesley Turner45Clara Van Karnebeek46Hilary Vallance47Anthony Vandersteen48Jagdeep Walia49Ashley Wilson50Brenda J. Wilson51Andrea C. Yu52Nataliya Yuskiv53Pranesh Chakraborty54on behalf of the Canadian Inherited Metabolic Diseases Research NetworkUniversity of OttawaNewborn Screening Ontario, Children’s Hospital of Eastern OntarioUniversity of OttawaUniversity of OttawaThe Hospital for Sick Children, University of TorontoUniversity of OttawaUniversity of OttawaUniversity of OttawaNewborn Screening Ontario, Children’s Hospital of Eastern OntarioThe Hospital for Sick Children, University of TorontoLe centre hospitalier universitaire Ste-JustineMontreal Children’s Hospital, McGill UniversityStollery Children’s Hospital, University of AlbertaIWK Health Centre, Dalhousie UniversityThe Hospital for Sick Children, University of TorontoBC Children’s Hospital, University of British ColumbiaIWK Health Centre, Dalhousie UniversityHealth Sciences Centre Winnipeg, University of ManitobaStollery Children’s Hospital, University of AlbertaThe Hospital for Sick Children, University of TorontoLondon Health Sciences Centre, Western UniversityHamilton Health Sciences Centre, McMaster UniversityNewborn Screening Ontario, Children’s Hospital of Eastern OntarioNewborn Screening Ontario, Children’s Hospital of Eastern OntarioUniversity of OttawaHamilton Health Sciences Centre, McMaster UniversityLe centre hospitalier universitaire SherbrookeThe Hospital for Sick Children, University of TorontoAlberta Children’s Hospital, University of CalgaryHealth Sciences Centre Winnipeg, University of ManitobaLe centre hospitalier universitaire Ste-JustineMontreal Children’s Hospital, McGill UniversityThe Hospital for Sick Children, University of TorontoLondon Health Sciences Centre, Western UniversityHamilton Health Sciences Centre, McMaster UniversityHamilton Health Sciences Centre, McMaster UniversityLondon Health Sciences Centre, Western UniversityLondon Health Sciences Centre, Western UniversityBC Children’s Hospital, University of British ColumbiaThe Hospital for Sick Children, University of TorontoStollery Children’s Hospital, University of AlbertaThe Hospital for Sick Children, University of TorontoAlberta Children’s Hospital, University of CalgaryBC Children’s Hospital, University of British ColumbiaMontreal Children’s Hospital, McGill UniversityJaneway Children’s Hospital, Memorial UniversityBC Children’s Hospital, University of British ColumbiaBC Children’s Hospital, University of British ColumbiaIWK Health Centre, Dalhousie UniversityKingston General Hospital, Queen’s UniversityThe Hospital for Sick Children, University of TorontoJaneway Children’s Hospital, Memorial UniversityLondon Health Sciences Centre, Western UniversityBC Children’s Hospital, University of British ColumbiaUniversity of OttawaAbstract 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.http://link.springer.com/article/10.1186/s13023-020-01358-zInherited metabolic diseasesObservational researchRegistry scienceData qualityDatabaseSustainability |