Publications

• Baba A, Tay J, Sammy A, Douglas WA, Goren K, Krause KR, Howie AH, Little J, Oskoui M, Taljaard M, Thombs BD, Potter BK, Butcher NJ, Offringa M. Heterogeneous use of registry data for participant identification and primary outcome ascertainment is found in registry-based randomized controlled trials: A scoping review. J Clin Epi (2023), doi: https://doi.org/10.1016/j.jclinepi.2023.04.016

• Krause KR, Tay J, Douglas WA, Sammy A, Baba A, Goren K, Thombs BD, Howie AH, Oskoui M, Frøbert O, Trakadis Y, Little J, Potter BK, Butcher NJ, Offringa M, Paper II: Thematic framework analysis of registry-based randomized controlled trials provided insights for designing trial ready registries, J Clin Epi (2023), doi: https://doi.org/10.1016/j.jclinepi.2023.04.015

• Vanderhout S, Potter BK, Smith M, Butcher NJ, Vaters J, Chakraborty P, Adams J, Inbar-Feigenberg M, Offringa M, Speechley K, Trakadis Y, Binik A. Ethical and practical considerations related to data sharing when collecting patient-reported outcomes in care-based child health research. Qual Life Res 2023; doi: https://doi.org/10.1007/s11136-023-03393-2

• Smith M, Potter B, Vanderhout S, Howie A. Patient partnership in a pediatric rare disease research network: Mutual learning for meaningful research. In: Reszel J, McCutcheon C, Kothari A, Graham ID, editors. How We Work Together: The Integrated Knowledge Translation Casebook. Volume 6. Ottawa, ON: Integrated Knowledge Translation Research Network. 2022; 16-19. Available at: https://iktrn.ohri.ca/projects/casebook/

• Howie AH, Tingley K , Inbar-Feigenberg M, Mitchell JJ, Butcher NJ, Offringa M, Smith M, Angel K, Gentle J, Wyatt A, Campeau PM, Chan A, Chakraborty P, El Turk F, Mamak M, Mhanni A, Skidmore S, Sparkes R, Stockler S, Potter BK and in collaboration with the INFORM RARE Network. Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys. Trials 2021; 22:816, doi: https://doi.org/10.1186/s13063-021-05791-8

• Oskoui M, Potter BK. Methodological challenges in measuring meaningful change in individuals with spinal muscular atrophy. Muscle & Nerve 2021; 64:639-640, doi: https://doi.org/10.1002/mus.27442

• Vanderhout SM, Smith M, Pallone N, Tingley K, Pugliese M, Chakraborty P, Stockler S, Offringa M, Butcher N, Nicholls SG, Potter BK. Patient and family engagement in the development of core outcome sets for two rare chronic diseases in children. Res Involv Engagem 2021; 7:66, doi: https://doi.org/10.1186/s40900-021-00304-y

• Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Chakraborty P, Geraghty MT, Irwin JK, Mitchell JJ, Stockler S, Nicholls SG, Offringa M, Rahman A, Tessier LA, Butcher NJ, Iverson R, Lamoureux M, Clifford TJ, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain S, Karp N, Korngut L, Kronik J, MacKenzie A, MacKenzie J, Maranda B, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK in collaboration with the Canadian Inherited Metabolic Diseases Research Network. Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria. Pediatrics 2021; 148(2):e2020037747, doi: https://doi.org/10.1542/peds.2020-037747

• Hodgkinson V, Oskoui M, Lounsberry J, M’Dahoma S, Butler E, Campbell C, MacKenzie A, McMillan HJ, Simard L, Vasjar J, Brais B, Chapman KM, Chrestian N, Crone M, Dobrowolski P, Dojeiji S, Dowling JJ, Dupré N, Genge A, Gonorazky H, Hasal S, Izenberg A, Johnston W, Leung E, Lochmüller H, Mah JK, Marerro A, Massie R, McAdam L, McCormick A, Melanson M, Mezei MM, Nguyen CTE, O’Connell C, O’Ferrall EK, Pfeffer G, Phan C, Plamondon S, Poulin C, Rodrigue X, Schellenberg KL, Selby K, Sheriko J, Shoesmith C, Smith G, Taillon M, Taylor S, Warman Chardon J, Worley S, and Korngut L. A National Spinal Muscular Atrophy Registry for Real-World Evidence. Can J Neurol Sci 2020; 47(6):810-815, doi: https://doi.org/10.1017/cjn.2020.111

• Pugliese M, Tingley K, Chow A, Pallone N, Smith M, Rahman A, Chakraborty P, Geraghty MT, Irwin JK, Tessier L, Nicholls SG, Offringa M, Butcher NJ, Iverson R, Clifford TJ, Stockler S, Hutton B, Paik K, Tao J, Skidmore B, Coyle D, Duddy K, Dyack S, Greenberg CR, Jain Ghai S, Karp N, Korngut L, Kronick J, MacKenzie A, MacKenzie J, Maranda B, Mitchell JJ, Potter M, Prasad C, Schulze A, Sparkes R, Taljaard M, Trakadis Y, Walia J, Potter BK; Canadian Inherited Metabolic Diseases Research Network. Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review. Orphanet J Rare Dis 2020; 15(1):12, doi: https://doi.org/10.1186/s13023-019-1276-1

Présentations

• Howie AH, Inbar-Feigenberg M, Mitchell JJ, Smith M, Angel K, Gentle J, Butcher NJ, Offringa M, Campeau PM, Chan AKJ, Chakraborty P, Dyack S, El Turk F, Fergusson D, Greenberg CR, Kozenko M, Mamak E, Mercimek-Andrews S, Mhanni A, Rupar T, Sparkes R, Stockler S, Thavorn K, Tingley K, Wyatt A, Potter BK on behalf of the INFORM RARE Network. Identifying outcomes that matter: developing a core outcome set for pediatric mucopolysaccharidoses. Poster presentation at the Garrod Symposium, Quebec City, Quebec, Canada, May 4-6, 2023.

• Chen X, Selby K, Herzig D, Cardiff K, Cushen N, Defosses Y, Gonorazky H, Gottowik J, Haldenby R, Jurisic I, Karthigesu S, MacIntyre L, MacKenzie A, Mah J, McCullough J, Ng P, Opalka S, Openchowski M, Petkun S, Potter B, Sheriko J, Smith M, Strahm M, Turgeon Desilets S, Woof A, Oskoui M. Feasibility of a Home-Based Exergame Therapy for Youth with Spinal Muscular Atrophy. Poster presentation at the American Academy of Neurology Annual Meeting, Boston, Massachusetts, USA, April 22-27, 2023.

• Howie AH, Wyatt A, Inbar-Feigenberg M, Mitchell JJ, Smith M, Angel K, Gentle J, Butcher NJ, Offringa M, Campeau PM, Chan AKJ, Chakraborty P, Chow A1, El Turk F, Greenberg CR, Mamak E, Mhanni A, Rupar T, Sparkes R, Thavorn K, Tingley K, Potter BK on behalf of the INFORM RARE Network. Development of a core outcome set for mucopolysaccharidoses (MPS) in children: Results from Delphi surveys and a consensus workshop. Poster presentation at the WORLD Symposium, Orlando, Florida, USA, February 24, 2023.

• Butcher N, Baba A, Tay J, Malandrino C, Pallone N, Richards D, Smith M, Vanderhout S, Offringa M, Potter B. CommuniKIDS: Changing the way we communicate trial results in child health research. Presented at the 2022 CHILD-BRIGHT Virtual Symposium, December 9, 2022.

• Howie AH, Wyatt A, Inbar-Feigenberg M, Mitchell JJ, Smith M, Angel K, Gentle J, Butcher NJ, Offringa M, Campeau PM, Chan A, Chakraborty P, Chow A, El Turk F, Greenberg CR, Kozenko M, Mamak E, Mhanni A, Rupar T, Skidmore B, Sparkes R, Stockler S, Thavorn K, Tingley K, Potter BK on behalf of the INFORM RARE Network. Towards a Core Outcome Set for Mucopolysaccharidoses (MPS) in Children: Results from 3 Rounds of Delphi Surveys. Oral presentation at the Canadian Symposium on Lysosomal Diseases (CSLD), Halifax, Nova Scotia, Canada, October 15, 2022.

• Butcher N, Baba A, Tay J, Malandrino C, Pallone N, Richards D, Smith M, Vanderhout S, Offringa M, Potter B. CommuniKIDS: Changing the way we communicate trial results in child health research. Presented at the SickKids Research Institute Retreat, Toronto, Ontario, October 13, 2022.

• Butcher N, Baba A, Tay J, Malandrino C, Pallone N, Richards D, Smith M, Vanderhout S, Offringa M, Potter B. CommuniKIDS: Co-development and dissemination of a tool for communicating trial results in child health research. Presented at the 2022 KT Canada Annual Scientific Meeting, Virtual, May 4-6, 2022.

• Wyatt A, Adams J, Angel K, Lamoureux M, Howie AH, Saad A, Butcher NJ, Greenberg C, Hayeems RZ, Inbar-Feigenberg M, Laberge AM, Lacaze-Masmonteil T, McCabe C, Mitchell JJ, Offringa M, Oskoui M, Ruth C, Speechley K, Stockler S, Thavorn K, Schulze A, Trakadis Y, Wilson K, Chakraborty P, Potter BK, & on behalf of the INFORM RARE Network. Designing patient-oriented longitudinal disease registries for children with rare metabolic diseases in Canada. Presented at the Garrod Symposium, Calgary, Alberta, May 12-14, 2022.

• Vanderhout S, Howie AH, Malandrino C, Smith M, and Potter BK. Youth and family engagement in clinical trials about phenylketonuria, spinal muscular atrophy, and mucopolysaccharidoses. Presented at the Garrod Symposium, Calgary, Alberta, May 12-14, 2022.

• Howie AH, Tingley K, Wyatt A, Inbar-Feigenberg M, Mitchell JJ, Butcher NJ, Offringa M, Smith M, Angel K, Gentle J, Campeau PM, Chan A, Chakraborty P, El Turk F, Greenberg C, Kozenko M, Mamak E, Mhanni A, Rupar T, Skidmore B, Sparkes R, Stockler S, Thavorn K, Potter BK on behalf of the INFORM RARE Network. Towards a core outcome set for mucopolysaccharidoses (MPS) in children: a rapid review of outcomes in intervention studies and guidelines. Presented at the Garrod Symposium, Calgary, Alberta, May 12-14, 2022.

• Smith M, Howie A, Vanderhout S, Malandrino C, Potter BK. Youth and family engagement in a pediatric rare disease research network. Presented at the Canadian Association for Health Services and Policy Research (CAHSPR) Conference (virtual), May 31, 2022.

• Howie AH, Chakraborty P, Binik A, Butcher NJ, Inbar-Feigenberg M, McCabe C, Mitchell JJ, Offringa M, Oskoui M, Round J, Smith M, Stockler-Ipsiroglu S, Lamoureux M, Iverson R, Tingley K, Vanderhout S, Potter BK on behalf of the INFORM RARE Network. Building an Innovative Registry-Based Randomized Trial Network to Support Decision-Making About Paediatric Rare Disease Therapies: The First Year of the INFORM RARE Network. Poster presentation at the Garrod Symposium (virtual), May 5-7, 2021.