Yi Wei1,2, Anna McCormick3, Alex MacKenzie3, Erin O'Ferrall4, Shannon Venance5, Jean K Mah6,7,8, Kathryn Selby9, Hugh J McMillan3, Garth Smith10, Maryam Oskoui11,12, Gillian Hogan13, Laura McAdam14, Gracia Mabaya1,2, Victoria Hodgkinson6,8, Josh Lounsberry6,8, Lawrence Korngut6,8, Craig Campbell1,2,5,15. 1. Department of Paediatrics, University of Western Ontario, London, Ontario. 2. Children's Health Research Institute, Lawson Health Research Institute, University of Western Ontario, London, Ontario. 3. Pediatric Neurology, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario. 4. Rare Neurological Diseases Group, Montreal Neurological Institute, McGill University, Montreal, Quebec. 5. Department of Clinical Neurological Sciences, University of Western Ontario, London, Ontario. 6. Department of Clinical Neurosciences, University of Calgary, Calgary, Alberta. 7. Department of Paediatrics, University of Calgary, Calgary, Alberta. 8. Hotchkiss Brain Institute, University of Calgary, Calgary, Alberta. 9. Division of Neurology, Department of Pediatrics, University of British Columbia, Vancouver, British Columbia. 10. Child Development Centre, Hotel Dieu Hospital, Queen's University, Kingston, Ontario. 11. Department of Pediatrics, McGill University, Montreal, Quebec. 12. Department of Neurology & Neurosurgery, McGill University, Montreal, Quebec. 13. Erin Oak Kids Centre for Treatment and Development, Mississauga, Ontario. 14. Holland-Bloorview Kids Rehabilitation Hospital, University of Toronto, Toronto, Ontario. 15. Department of Epidemiology and Biostatistics, University of Western Ontario, London, Ontario.
Abstract
INTRODUCTION: Patient registries serve an important role in rare disease research, particularly for the recruitment and planning of clinical trials. The Canadian Neuromuscular Disease Registry was established with the primary objective of improving the future for neuromuscular (NM) patients through the enablement and support of research into potential treatments. METHODS: In this report, we discuss design and utilization of the Canadian Neuromuscular Disease Registry with special reference to the paediatric cohort currently enrolled in the registry. RESULTS: As of July 25, 2017, there are 658 paediatric participants enrolled in the registry, 249 are dystrophinopathies (229 are Duchenne muscular dystrophy), 57 are myotonic dystrophy participants, 98 spinal muscular atrophy participants and 65 are limb girdle muscular dystrophy. A total of 175 patients have another NM diagnosis. The registry has facilitated 20 clinical trial inquiries, 5 mail-out survey studies and 5 other studies in the paediatric population. DISCUSSION: The strengths of the registry are discussed. The registry has proven to be an invaluable tool to NM disease research and has increased Canada's visibility as a competitive location for the conduct of clinical trials for NM therapies.
INTRODUCTION: Patient registries serve an important role in rare disease research, particularly for the recruitment and planning of clinical trials. The Canadian Neuromuscular Disease Registry was established with the primary objective of improving the future for neuromuscular (NM) patients through the enablement and support of research into potential treatments. METHODS: In this report, we discuss design and utilization of the Canadian Neuromuscular Disease Registry with special reference to the paediatric cohort currently enrolled in the registry. RESULTS: As of July 25, 2017, there are 658 paediatric participants enrolled in the registry, 249 are dystrophinopathies (229 are Duchenne muscular dystrophy), 57 are myotonic dystrophy participants, 98 spinal muscular atrophy participants and 65 are limb girdle muscular dystrophy. A total of 175 patients have another NM diagnosis. The registry has facilitated 20 clinical trial inquiries, 5 mail-out survey studies and 5 other studies in the paediatric population. DISCUSSION: The strengths of the registry are discussed. The registry has proven to be an invaluable tool to NM disease research and has increased Canada's visibility as a competitive location for the conduct of clinical trials for NM therapies.
Authors: Nicholas E Johnson; Anne-Berit Ekstrom; Craig Campbell; Man Hung; Heather R Adams; Wei Chen; Elizabeth Luebbe; James Hilbert; Richard T Moxley; Chad R Heatwole Journal: Dev Med Child Neurol Date: 2015-10-28 Impact factor: 5.449
Authors: Catherine L Bladen; Karen Rafferty; Volker Straub; Soledad Monges; Angélica Moresco; Hugh Dawkins; Anna Roy; Teodora Chamova; Velina Guergueltcheva; Lawrence Korngut; Craig Campbell; Yi Dai; Nina Barišić; Tea Kos; Petr Brabec; Jes Rahbek; Jaana Lahdetie; Sylvie Tuffery-Giraud; Mireille Claustres; France Leturcq; Rabah Ben Yaou; Maggie C Walter; Olivia Schreiber; Veronika Karcagi; Agnes Herczegfalvi; Venkatarman Viswanathan; Farhad Bayat; Isis de la Caridad Guerrero Sarmiento; Anna Ambrosini; Francesca Ceradini; En Kimura; Janneke C van den Bergen; Miriam Rodrigues; Richard Roxburgh; Anna Lusakowska; Jorge Oliveira; Rosário Santos; Elena Neagu; Niculina Butoianu; Svetlana Artemieva; Vedrana Milic Rasic; Manuel Posada; Francesc Palau; Björn Lindvall; Clemens Bloetzer; Ayşe Karaduman; Haluk Topaloğlu; Serap Inal; Piraye Oflazer; Angela Stringer; Andriy V Shatillo; Ann S Martin; Holly Peay; Kevin M Flanigan; David Salgado; Brigitta von Rekowski; Stephen Lynn; Emma Heslop; Sabina Gainotti; Domenica Taruscio; Jan Kirschner; Jan Verschuuren; Kate Bushby; Christophe Béroud; Hanns Lochmüller Journal: Hum Mutat Date: 2013-08-26 Impact factor: 4.878
Authors: Catherine L Bladen; David Salgado; Soledad Monges; Maria E Foncuberta; Kyriaki Kekou; Konstantina Kosma; Hugh Dawkins; Leanne Lamont; Anna J Roy; Teodora Chamova; Velina Guergueltcheva; Sophelia Chan; Lawrence Korngut; Craig Campbell; Yi Dai; Jen Wang; Nina Barišić; Petr Brabec; Jaana Lahdetie; Maggie C Walter; Olivia Schreiber-Katz; Veronika Karcagi; Marta Garami; Venkatarman Viswanathan; Farhad Bayat; Filippo Buccella; En Kimura; Zaïda Koeks; Janneke C van den Bergen; Miriam Rodrigues; Richard Roxburgh; Anna Lusakowska; Anna Kostera-Pruszczyk; Janusz Zimowski; Rosário Santos; Elena Neagu; Svetlana Artemieva; Vedrana Milic Rasic; Dina Vojinovic; Manuel Posada; Clemens Bloetzer; Pierre-Yves Jeannet; Franziska Joncourt; Jordi Díaz-Manera; Eduard Gallardo; A Ayşe Karaduman; Haluk Topaloğlu; Rasha El Sherif; Angela Stringer; Andriy V Shatillo; Ann S Martin; Holly L Peay; Matthew I Bellgard; Jan Kirschner; Kevin M Flanigan; Volker Straub; Kate Bushby; Jan Verschuuren; Annemieke Aartsma-Rus; Christophe Béroud; Hanns Lochmüller Journal: Hum Mutat Date: 2015-03-17 Impact factor: 4.878