INFORM RARE and Related Research Publications and Presentations

We are passionate about generating high-quality evidence to support decision-making about therapies for children with rare diseases.

 

INFORM RARE and Related Research Publications

  • Howie AH, Tingley K, Inbar-Feigenberg M, Mitchell JJ, Angel K, Gentle J, Smith M, Offringa M, Butcher NJ, Campeau PM, Chakraborty P, Chan A, Fergusson D, Mamek E, McClelland P, Mercimek-Andrews S, Mhanni A, Moazin Z, Rockman-Greenberg C, Rupar T, Skidmore B, Stockler S, Thavorn K, Wyatt A, Potter BK. Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement. Orphanet Journal of Rare Diseases. 2024 Oct 23;19(1):393. doi: https://doi.org/10.1186/s13023-024-03364-x

  • Baba A, Smith M, Potter BK, Chan AW, Moher D, Offringa M. Guidelines for reporting pediatric and child health clinical trial protocols and reports: study protocol for SPIRIT-Children and CONSORT-Children. Trials. 2024 Jan 30;25(1):96. https://doi.org/10.1186/s13063-024-07948-7

  • Iverson R, Taljaard M, Geraghty MT, Pugliese M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel-Guitton C, Buhas D, Butcher NJ, Chan AKJ, Dyack S, Goobie S, Greenberg CR, Jain-Ghai S, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mhanni A, Mitchell JJ, Nagy L, Offringa M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Tapscott K, Trakadis Y, Turner L, Van Karnebeek C, Vandersteen A, Walia JS, Wilson BJ, Yu AC, Potter BK, Chakraborty P. Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. BMC Pediatr. 2024 Jan 13;24(1):37. doi: https://doi.org/10.1186/s12887-023-04393-4

  • Baba A, Richards DP, Smith M, Pallone N, Vanderhout S, Prebeg M, Elsman EBM, Potter BK, Offringa M, Butcher NJ. Youth and family involvement in the development of a plain language trial results communication tool: CommuniKIDS. Res Involv Engagem 2023;9:88, doi: https://doi.org/10.1186/s40900-023-00499-2

  • 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;159:289-299, 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;159:330-343, 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;32:2319-2328, 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/

  • Chow AJ, Iverson R, Lamoureux M, et al. Families' healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study. BMJ Open 2022; 12(2):e055664. doi: https://doi.org/10.1136/bmjopen-2021-055664

  • Chow AJ, Pugliese M, Tessier LA, et al. Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross‑Sectional Survey. Patient 2022; 15: 171-85. doi: https://doi.org/10.1007/s40271-021-00538-8

  • 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

  • Tingley K, Coyle D, Graham I, et al. Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of research. Orphanet J Rare Dis 2021;16(1):26. doi: https://doi.org/10.1186/s13023-020-01624-0

  • 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

  • Tingley K, Lamoureux M, Pugliese M, et al. 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 J Rare Dis. 2020;15:89. doi: https://doi.org/10.1186/s13023-020-01358-z

  • 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

  • Fairfax A, Brehaut J, Colman I, et al. A systematic review of the association between coping strategies and quality of life among caregivers of children with chronic illness and/or disability. BMC Pediatr. 2019;19(1):1-16. doi: https://doi.org/10.1186/s12887-019-1587-3

  • Karaceper MD, Khangura SD, Wilson K, et al. Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: A cohort study in Ontario, Canada. Orphanet J Rare Dis. 2019;14(1):4-13. doi: https://doi.org/10.1186/s13023-019-1001-0

  • Paik K, Lines MA, Chakraborty P, et al. Health Care for Mitochondrial Disorders in Canada: A Survey of Physicians. Can J Neurol Sci / J Can des Sci Neurol. 2019;46:717-726. doi: https://doi.org/10.1017/cjn.2019.240

  • Yuskiv N, Potter BK, Stockler S, et al. Nutritional management of phenylalanine hydroxylase (PAH) deficiency in pediatric patients in Canada: A survey of dietitians’ current practices. Orphanet J Rare Dis. 2019;14:7. doi: https://doi.org/10.1186/s13023-018-0978-0

  • Tingley K, Coyle D, Graham ID, et al. Using a meta-narrative literature review and focus groups with key stakeholders to identify perceived challenges and solutions for generating robust evidence on the effectiveness of treatments for rare diseases. Orphanet J Rare Dis. 2018;13:104. doi: https://doi.org/10.1186/s13023-018-0851-1

  • Potter BK, Hutton B, Clifford TJ, et al. Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys. Trials 2017;18:603. doi: https://doi.org/10.1186/s13063-017-2327-3

  • Siddiq S, Wilson BJ, Graham ID, et al. Experiences of caregivers of children with inherited metabolic diseases: a qualitative study. Orphanet J Rare Dis. 2016;11:168. doi: https://doi.org/10.1186/s13023-016-0548-2

  • Karaceper MD, Chakraborty P, Coyle D, et al. The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study. Orphanet J Rare Dis. 2016;11:12. doi: https://doi.org/10.1186/s13023-016-0391-5

  • Khangura SD, Tingley K, Chakraborty P, et al. Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups. J Inherit Metab Dis. 2015;39:139-147. doi: https://doi.org/10.1007/s10545-015-9881-1

  • Potter BK, Khangura SD, Tingley K, et al. Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research? Genet Med. 2015;18:117–123. doi: https://doi.org/10.1038/gim.2015.42

  • Lamoureux MF, Tingley K, Kronick JB, et al. Metabolic clinic atlas: Organization of care for children with inherited metabolic disease in Canada. JIMD Reports 2015;21, 15-22. doi: https://doi.org/10.1007/8904_2014_347

  • Khangura SD, Karaceper MD, Trakadis Y, et al. Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease. BMC Pediatrics 2015;15(7). doi: https://doi.org/10.1186/s12887-015-0323-x

  • Trakadis YJ, Alfares A, Bodamer OA, et al. Update on transcobalamin deficiency: clinical presentation, treatment and outcome. J Inherit Metab Dis. 2014; 37(3):461-473. doi: https://doi.org/10.1007/s10545-013-9664-5

  • Potter BK, Chakraborty, P, Kronic K, et al. Achieving the “triple aim” for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework. Genet Med. 2012; 15(6):415-422. doi: https://doi.org/10.1038/gim.2012.153

Presentations

  • Smith M & Potter BK. Co-designing youth and family involvement in selecting outcome measurement instruments: Experiences across six pediatric core outcome sets. Oral presentation at the Core Outcome Measures in Effectiveness Trials (COMET) Workshop, Edinburgh, Scotland, September 30, 2024.

  • Potter BK, Howie AH, Mitchell JJ, Inbar-Feigenberg M, Smith M, Angel K, Gentle J, Butcher NJ, Offringa M, Campeau PM, Chan AKJ, Chakraborty P, Dyack S, El Turk F, Fergusson D, Rockman-Greenberg C, Kozenko M, Mamak E, Mercimek-Andrews S, Mhanni A, Rupar T, Stockler S, Thavorn K, Tingley K, Wyatt A on behalf of the INFORM RARE Network. Identifying outcomes that matter: developing a core outcome set for pediatric mucopolysaccharidoses. Poster presentation at the International Clinical Trials Methodology Conference (ICTMC), Edinburgh, Scotland, October, 2024.

  • Smith M, Howie AH, Potter BK, Vanderhout S, Ahkter MA, Angel K, Binik A, Danielson T, Défossés Y, Gentle Jen, Gentle Jes, Hill K, Iverson E, Malandrino C, Mitchel JJ, Offringa M. Evaluating patient involvement: Lessons learned from a Canadian pediatric rare disease research network. Poster presentation at the International Clinical Trials Methodology Conference (ICTMC), Edinburgh, Scotland, October, 2024.

  • Mitchell JJ*, Inbar-Feigenberg M, Angel K, Adams J, Chakraborty P, Potter BK, Stockler-Ipsiroglu S, Howie AH, Lamoureux M, Lynn E, O’Sullvian C, Butcher NJ, Hayeems R, Laberge AM, Lacaze-Masmonteil T, Offringa M, Oskoui M, Rockman-Greenberg C, Round J, Schulze A, Speechley K, Thavorn K, Trakadis Y, Wilson K. The Canadian MPS Registry: development and findings from the first 5 months. Oral presentation at the Canadian Symposium for Lysosomal Storage Diseases (CSLD), Ottawa ON, October, 2024.

  • Smith M*, Howie AH*, Potter BK, Vanderhout S, Ahktar MA, Angel K, Binik A, Danielson T, Défosses Y, Gentle Jen, Gentle Jes, Hill K, Iverson E, Malandrino C, Mitchell JJ, Offringa M. Evaluating Patient Involvement: Lessons Learned from a Canadian Pediatric Rare Disease Research Network. Oral presentation, Canadian Asssociation for Health Services and Policy Research (CAHSPR), Ottawa ON, May, 2024.

  • Adams J, Angel K, Mitchell JJ, Chakraborty P, Potter BK, Inbar-Feigenberg M, Stockler S, Lamoureux M, Howie AH, Pace A, Butcher NJ, Rockman-Greenberg C, Hayeems R, Laberge AM, Lacaze-Masmonteil T, Round J, Offringa M, Oskoui M, Schulze A, Speechley K, Thavorn K, Trakadis Y, Wilson K. Co-developing longitudinal patient registries for phenylketonuria and mucopolysaccharidoses in Canada. Poster presentation at the Society for Inherited Metabolic Diseases Conference, Charlotte, NC, USA, April 15, 2024.

  • Mitchell JJ. Co-developing The Canadian MPS Registry: a longitudinal rare disease patient registry. Oral presentation at the WORLD Symposium, San Diego, California, USA, February 16, 2024.

  • Mitchell JJ, Inbar-Feigenberg M, Angel K, Chakraborty P, Lamoureux M, Adams J, Potter BK, Stockler-Ipsiroglu S, Howie AH, Pace A, Butcher NJ, Rockman-Greenberg C, Hayeems R, Laberge AM, Lacaze-Masmonteil T, Offringa M, Oskoui M, Round J, Ruth C, Schulze A, Speechley K, Thavorn K, Trakadis Y, Wilson K. Co-developing The Canadian MPS Registry: a longitudinal rare disease patient registry. Poster presentation at the WORLD Symposium, San Diego, California, USA, February 15, 2024.

  • Inbar-Feigenberg M, Lamoureux M, Adams J, Angel K, Chakraborty P, Potter B, Mitchell J, Stockler S, Howie A, Pace A, Butcher N, Greenberg C, Hayeems R, Laberge AM, Lacaze-Masmonteil T, Round J, Offringa M, Oskoui M, Ruth C, Schulze A, Speechley K, Thavorn K, Trakadis Y, Wilson K. Designing patient-oriented longitudinal disease registries for children with rare metabolic diseases in Canada. Poster presentation at the Society for the study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Jerusalem, Israel, August 29-September 1, 2023.

  • Inbar-Feigenberg M, Howie AH, 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 Society for the study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Jerusalem, Israel, August 29-September 1, 2023.

  • 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.