A National Spinal Muscular Atrophy Registry for Real-World Evidence

Joshua Lounsberry; Saïd M'Dahoma; Emily Butler; Craig Campbell; Alex Mackenzie; Hugh J. McMillan; Louise Simard; Jiri Vajsar; Bernard Brais; Kristine M. Chapman; Nicolas Chrestian; Meghan Crone; Peter Dobrowolski; Susan Dojeiji; James J. Dowling; Nicolas Dupré; Angela Genge; Hernan Gonorazky; Simona Hasal; Aaron Izenberg; Wendy Johnston; Edward Leung; Hanns Lochmüller; Jean K. Mah; Alier Marerro; Rami Massie; Laura McAdam; Anna McCormick; Michel Melanson; Michelle M. Mezei; Cam Tu E. Nguyen; Colleen O'Connell; Erin K. O'Ferrall; Gerald Pfeffer; Cecile Phan; Stephanie Plamondon; Chantal Poulin; Xavier Rodrigue; Kerri L. Schellenberg; Kathy Selby; Jordan Sheriko; Christen Shoesmith; Garth Smith; Monique Taillon; Sean Taylor; Jodi Warman Chardon; Scott Worley; Lawrence Korngut

doi:10.1017/cjn.2020.111

A National Spinal Muscular Atrophy Registry for Real-World Evidence

Joshua Lounsberry, Saïd M'Dahoma, Emily Butler, Craig Campbell, Alex Mackenzie, Hugh J. McMillan, Louise Simard, Jiri Vajsar, Bernard Brais, Kristine M. Chapman, Nicolas Chrestian, Meghan Crone, Peter Dobrowolski, Susan Dojeiji, James J. Dowling, Nicolas Dupré, Angela Genge, Hernan Gonorazky, Simona Hasal, Aaron IzenbergWendy Johnston, Edward Leung, Hanns Lochmüller, Jean K. Mah, Alier Marerro, Rami Massie, Laura McAdam, Anna McCormick, Michel Melanson, Michelle M. Mezei, Cam Tu E. Nguyen, Colleen O'Connell, Erin K. O'Ferrall, Gerald Pfeffer, Cecile Phan, Stephanie Plamondon, Chantal Poulin, Xavier Rodrigue, Kerri L. Schellenberg, Kathy Selby, Jordan Sheriko, Christen Shoesmith, Garth Smith, Monique Taillon, Sean Taylor, Jodi Warman Chardon, Scott Worley, Lawrence Korngut

Medicine

Producción científica: Contribución a una revista › Artículo › revisión exhaustiva

12 Citas (Scopus)

Resumen

Background: Spinal muscular atrophy (SMA) is a devastating rare disease that affects individuals regardless of ethnicity, gender, and age. The first-approved disease-modifying therapy for SMA, nusinursen, was approved by Health Canada, as well as by American and European regulatory agencies following positive clinical trial outcomes. The trials were conducted in a narrow pediatric population defined by age, severity, and genotype. Broad approval of therapy necessitates close follow-up of potential rare adverse events and effectiveness in the larger real-world population. Methods: The Canadian Neuromuscular Disease Registry (CNDR) undertook an iterative multi-stakeholder process to expand the existing SMA dataset to capture items relevant to patient outcomes in a post-marketing environment. The CNDR SMA expanded registry is a longitudinal, prospective, observational study of patients with SMA in Canada designed to evaluate the safety and effectiveness of novel therapies and provide practical information unattainable in trials. Results: The consensus expanded dataset includes items that address therapy effectiveness and safety and is collected in a multicenter, prospective, observational study, including SMA patients regardless of therapeutic status. The expanded dataset is aligned with global datasets to facilitate collaboration. Additionally, consensus dataset development aimed to standardize appropriate outcome measures across the network and broader Canadian community. Prospective outcome studies, data use, and analyses are independent of the funding partner. Conclusion: Prospective outcome data collected will provide results on safety and effectiveness in a post-therapy approval era. These data are essential to inform improvements in care and access to therapy for all SMA patients.

Idioma original	English
Páginas (desde-hasta)	810-815
Número de páginas	6
Publicación	Canadian Journal of Neurological Sciences
Volumen	47
N.º	6
DOI	https://doi.org/10.1017/cjn.2020.111
Estado	Published - nov. 1 2020

Nota bibliográfica

Funding Information:
Dr. VLH reports personal fees from Biogen, Roche, Sarepta outside the submitted work. Dr. MO reports grants from Fonds de Recherche Sante du Québec, grants from Kids Brain Health Network, grants from Canadian Institutes of Health Research, grants from SickKids Foundation, grants from Cerebral Palsy Alliance Research Foundation, other from Ionis, other from Biogen, other from Roche, other from Cytokinetics, personal fees and non-financial support from American Academy of Neurology, grants from Fondation du Grand Defi Pierre Lavoie, outside the submitted work. Mr. JL reports personal fees from Biogen Canada Limited, outside the submitted work. Ms. EB has nothing to disclose. Dr. SMD has nothing to disclose. Dr. CC reports grants, personal fees, and other from Biogen, during the conduct of the study; grants, personal fees, and other from PTC Therapeutics, other from Acceleron, AMO, Catabasis, Pfizer, Sarepta, Wave, BMS, Scholar Rock, and Roche, outside the submitted work. Dr. AM reports grants from Biogen, outside the submitted work. Dr. HJM has nothing to disclose. Dr. JV has nothing to disclose. Dr. BB has nothing to disclose. Dr. KMC has nothing to disclose. Dr NC received financial support to prepare review courses about SMA for neurologists, physical therapists, and pediatricians. Dr. MC reports personal fees from Biogen, outside the submitted work. Dr. PD has nothing to disclose. Dr. SD has nothing to disclose. Dr. JJD has nothing to disclose. Dr. ND has nothing to disclose. Dr. AG reports grants from Biogen, Sanofi-Genzyme, CSL Behring, MTPA, AL-S Pharma, AB Sciences, Novartis, Wave Life Sciences, Argenx, Alexion, Avexis, Ackea, Cytokinetics, Hoffman-La Roche, outside the submitted work. Dr. HG reports personal fees from Biogen. Dr. SH has nothing to disclose. Dr. AI has nothing to disclose. Dr. WJ reports personal fees from MT Pharma Canada, other from Cytokinetics, other from Biogen, other from Orion, other from Mallinkrodt, other from Apellis, other from Alexion, other from AB Science, outside the submitted work. Dr. EL has nothing to disclose. Dr. HL reports grants and personal fees from AMO Pharma, Biogen, Desitin, GW Pharma, Pfizer, PTC Therapeutics, Roche, Santhera, Sarepta, Satellos, Ultragenyx, outside the submitted work. Dr. JKM has nothing to disclose. Dr. AM has nothing to disclose. Dr. RM has nothing to disclose. Dr. LM reports other from Italfarmaco, outside the submitted work. Dr. AM has nothing to disclose. Dr. MM has nothing to disclose. Dr. MMM reports personal fees from Genzyme, Alnylam, Pfizer, Akcea, CSL Behring, outside the submitted work. Dr. C-TEN reports other from Pfizer, other from Catabasis, outside the submitted work. Dr. COC reports personal fees from MT Pharma, grants and personal fees from Canopy Growth, personal fees from IPSEN, grants from Cytokinetics, grants from Mallincrodtk, grants from Orion, personal fees from Shoppers Drug Mart, outside the submitted work. Dr. EKOF reports personal fees from PTC Therapeutics nmDMD Advisory Board, grants from Sanofi Genzyme, grants from Acceleron, from SAnofi Genzyme, grants from Grifols, during the conduct of the study. Dr. CP has nothing to disclose. Dr. GP has nothing to disclose. Dr. SP reports other from Biogen, outside the submitted work. Dr. CP has nothing to disclose. Dr. XR has nothing to disclose. Dr. KLS has nothing to disclose. Dr. KS reports grants from Biogen/IONIS, personal fees from Biogen, outside the submitted work. Dr. JS reports personal fees from Biogen, outside the submitted work. Dr. Simard has nothing to disclose. Dr. CS reports other from Biogen, outside the submitted work. Dr. GS reports personal fees from Shire Pharmaceuticals, personal fees from Purdue Pharmaceuticals, personal fees from Janssen Pharmaceuticals, outside the submitted work. Dr. MT reports grants from Allergan, personal fees from Biogen outside the submitted work. Dr. ST has nothing to disclose. Dr. JWC has nothing to disclose. Dr. SW reports personal fees from Cytokinetics, outside the submitted work. Dr. LK reports grants from Biogen, during the conduct of the study; grants from Sanofi Genzyme, Cytokinetics, personal fees from Alexion, Novartis, Mitsubishi Tanabe, Sarepta, Biogen, CSL Behring, outside the submitted work.

Publisher Copyright:
Copyright © The Author(s), 2020. Published by Cambridge University Press on behalf of The Canadian Journal of Neurological Sciences Inc..

ASJC Scopus Subject Areas

Neurology
Clinical Neurology

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10.1017/cjn.2020.111

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Lounsberry, J., M'Dahoma, S., Butler, E., Campbell, C., Mackenzie, A., McMillan, H. J., Simard, L., Vajsar, J., Brais, B., Chapman, K. M., Chrestian, N., Crone, M., Dobrowolski, P., Dojeiji, S., Dowling, J. J., Dupré, N., Genge, A., Gonorazky, H., Hasal, S., ... Korngut, L. (2020). A National Spinal Muscular Atrophy Registry for Real-World Evidence. Canadian Journal of Neurological Sciences, 47(6), 810-815. https://doi.org/10.1017/cjn.2020.111

Lounsberry, J, M'Dahoma, S, Butler, E, Campbell, C, Mackenzie, A, McMillan, HJ, Simard, L, Vajsar, 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 & Korngut, L 2020, 'A National Spinal Muscular Atrophy Registry for Real-World Evidence', Canadian Journal of Neurological Sciences, vol. 47, n.º 6, pp. 810-815. https://doi.org/10.1017/cjn.2020.111

@article{a8baaa7996a046d0bf77ebf199443158,

title = "A National Spinal Muscular Atrophy Registry for Real-World Evidence",

abstract = "Background: Spinal muscular atrophy (SMA) is a devastating rare disease that affects individuals regardless of ethnicity, gender, and age. The first-approved disease-modifying therapy for SMA, nusinursen, was approved by Health Canada, as well as by American and European regulatory agencies following positive clinical trial outcomes. The trials were conducted in a narrow pediatric population defined by age, severity, and genotype. Broad approval of therapy necessitates close follow-up of potential rare adverse events and effectiveness in the larger real-world population. Methods: The Canadian Neuromuscular Disease Registry (CNDR) undertook an iterative multi-stakeholder process to expand the existing SMA dataset to capture items relevant to patient outcomes in a post-marketing environment. The CNDR SMA expanded registry is a longitudinal, prospective, observational study of patients with SMA in Canada designed to evaluate the safety and effectiveness of novel therapies and provide practical information unattainable in trials. Results: The consensus expanded dataset includes items that address therapy effectiveness and safety and is collected in a multicenter, prospective, observational study, including SMA patients regardless of therapeutic status. The expanded dataset is aligned with global datasets to facilitate collaboration. Additionally, consensus dataset development aimed to standardize appropriate outcome measures across the network and broader Canadian community. Prospective outcome studies, data use, and analyses are independent of the funding partner. Conclusion: Prospective outcome data collected will provide results on safety and effectiveness in a post-therapy approval era. These data are essential to inform improvements in care and access to therapy for all SMA patients.",

author = "Joshua Lounsberry and Sa{\"i}d M'Dahoma and Emily Butler and Craig Campbell and Alex Mackenzie and McMillan, {Hugh J.} and Louise Simard and Jiri Vajsar and Bernard Brais and Chapman, {Kristine M.} and Nicolas Chrestian and Meghan Crone and Peter Dobrowolski and Susan Dojeiji and Dowling, {James J.} and Nicolas Dupr{\'e} and Angela Genge and Hernan Gonorazky and Simona Hasal and Aaron Izenberg and Wendy Johnston and Edward Leung and Hanns Lochm{\"u}ller and Mah, {Jean K.} and Alier Marerro and Rami Massie and Laura McAdam and Anna McCormick and Michel Melanson and Mezei, {Michelle M.} and Nguyen, {Cam Tu E.} and Colleen O'Connell and O'Ferrall, {Erin K.} and Gerald Pfeffer and Cecile Phan and Stephanie Plamondon and Chantal Poulin and Xavier Rodrigue and Schellenberg, {Kerri L.} and Kathy Selby and Jordan Sheriko and Christen Shoesmith and Garth Smith and Monique Taillon and Sean Taylor and {Warman Chardon}, Jodi and Scott Worley and Lawrence Korngut",

note = "Funding Information: Dr. VLH reports personal fees from Biogen, Roche, Sarepta outside the submitted work. Dr. MO reports grants from Fonds de Recherche Sante du Qu{\'e}bec, grants from Kids Brain Health Network, grants from Canadian Institutes of Health Research, grants from SickKids Foundation, grants from Cerebral Palsy Alliance Research Foundation, other from Ionis, other from Biogen, other from Roche, other from Cytokinetics, personal fees and non-financial support from American Academy of Neurology, grants from Fondation du Grand Defi Pierre Lavoie, outside the submitted work. Mr. JL reports personal fees from Biogen Canada Limited, outside the submitted work. Ms. EB has nothing to disclose. Dr. SMD has nothing to disclose. Dr. CC reports grants, personal fees, and other from Biogen, during the conduct of the study; grants, personal fees, and other from PTC Therapeutics, other from Acceleron, AMO, Catabasis, Pfizer, Sarepta, Wave, BMS, Scholar Rock, and Roche, outside the submitted work. Dr. AM reports grants from Biogen, outside the submitted work. Dr. HJM has nothing to disclose. Dr. JV has nothing to disclose. Dr. BB has nothing to disclose. Dr. KMC has nothing to disclose. Dr NC received financial support to prepare review courses about SMA for neurologists, physical therapists, and pediatricians. Dr. MC reports personal fees from Biogen, outside the submitted work. Dr. PD has nothing to disclose. Dr. SD has nothing to disclose. Dr. JJD has nothing to disclose. Dr. ND has nothing to disclose. Dr. AG reports grants from Biogen, Sanofi-Genzyme, CSL Behring, MTPA, AL-S Pharma, AB Sciences, Novartis, Wave Life Sciences, Argenx, Alexion, Avexis, Ackea, Cytokinetics, Hoffman-La Roche, outside the submitted work. Dr. HG reports personal fees from Biogen. Dr. SH has nothing to disclose. Dr. AI has nothing to disclose. Dr. WJ reports personal fees from MT Pharma Canada, other from Cytokinetics, other from Biogen, other from Orion, other from Mallinkrodt, other from Apellis, other from Alexion, other from AB Science, outside the submitted work. Dr. EL has nothing to disclose. Dr. HL reports grants and personal fees from AMO Pharma, Biogen, Desitin, GW Pharma, Pfizer, PTC Therapeutics, Roche, Santhera, Sarepta, Satellos, Ultragenyx, outside the submitted work. Dr. JKM has nothing to disclose. Dr. AM has nothing to disclose. Dr. RM has nothing to disclose. Dr. LM reports other from Italfarmaco, outside the submitted work. Dr. AM has nothing to disclose. Dr. MM has nothing to disclose. Dr. MMM reports personal fees from Genzyme, Alnylam, Pfizer, Akcea, CSL Behring, outside the submitted work. Dr. C-TEN reports other from Pfizer, other from Catabasis, outside the submitted work. Dr. COC reports personal fees from MT Pharma, grants and personal fees from Canopy Growth, personal fees from IPSEN, grants from Cytokinetics, grants from Mallincrodtk, grants from Orion, personal fees from Shoppers Drug Mart, outside the submitted work. Dr. EKOF reports personal fees from PTC Therapeutics nmDMD Advisory Board, grants from Sanofi Genzyme, grants from Acceleron, from SAnofi Genzyme, grants from Grifols, during the conduct of the study. Dr. CP has nothing to disclose. Dr. GP has nothing to disclose. Dr. SP reports other from Biogen, outside the submitted work. Dr. CP has nothing to disclose. Dr. XR has nothing to disclose. Dr. KLS has nothing to disclose. Dr. KS reports grants from Biogen/IONIS, personal fees from Biogen, outside the submitted work. Dr. JS reports personal fees from Biogen, outside the submitted work. Dr. Simard has nothing to disclose. Dr. CS reports other from Biogen, outside the submitted work. Dr. GS reports personal fees from Shire Pharmaceuticals, personal fees from Purdue Pharmaceuticals, personal fees from Janssen Pharmaceuticals, outside the submitted work. Dr. MT reports grants from Allergan, personal fees from Biogen outside the submitted work. Dr. ST has nothing to disclose. Dr. JWC has nothing to disclose. Dr. SW reports personal fees from Cytokinetics, outside the submitted work. Dr. LK reports grants from Biogen, during the conduct of the study; grants from Sanofi Genzyme, Cytokinetics, personal fees from Alexion, Novartis, Mitsubishi Tanabe, Sarepta, Biogen, CSL Behring, outside the submitted work. Publisher Copyright: Copyright {\textcopyright} The Author(s), 2020. Published by Cambridge University Press on behalf of The Canadian Journal of Neurological Sciences Inc..",

year = "2020",

month = nov,

day = "1",

doi = "10.1017/cjn.2020.111",

language = "English",

volume = "47",

pages = "810--815",

journal = "Canadian Journal of Neurological Sciences",

issn = "0317-1671",

publisher = "Canadian Journal of Neurological Sciences",

number = "6",

}

TY - JOUR

T1 - A National Spinal Muscular Atrophy Registry for Real-World Evidence

AU - Lounsberry, Joshua

AU - M'Dahoma, Saïd

AU - Butler, Emily

AU - Campbell, Craig

AU - Mackenzie, Alex

AU - McMillan, Hugh J.

AU - Simard, Louise

AU - Vajsar, Jiri

AU - Brais, Bernard

AU - Chapman, Kristine M.

AU - Chrestian, Nicolas

AU - Crone, Meghan

AU - Dobrowolski, Peter

AU - Dojeiji, Susan

AU - Dowling, James J.

AU - Dupré, Nicolas

AU - Genge, Angela

AU - Gonorazky, Hernan

AU - Hasal, Simona

AU - Izenberg, Aaron

AU - Johnston, Wendy

AU - Leung, Edward

AU - Lochmüller, Hanns

AU - Mah, Jean K.

AU - Marerro, Alier

AU - Massie, Rami

AU - McAdam, Laura

AU - McCormick, Anna

AU - Melanson, Michel

AU - Mezei, Michelle M.

AU - Nguyen, Cam Tu E.

AU - O'Connell, Colleen

AU - O'Ferrall, Erin K.

AU - Pfeffer, Gerald

AU - Phan, Cecile

AU - Plamondon, Stephanie

AU - Poulin, Chantal

AU - Rodrigue, Xavier

AU - Schellenberg, Kerri L.

AU - Selby, Kathy

AU - Sheriko, Jordan

AU - Shoesmith, Christen

AU - Smith, Garth

AU - Taillon, Monique

AU - Taylor, Sean

AU - Warman Chardon, Jodi

AU - Worley, Scott

AU - Korngut, Lawrence

N1 - Funding Information: Dr. VLH reports personal fees from Biogen, Roche, Sarepta outside the submitted work. Dr. MO reports grants from Fonds de Recherche Sante du Québec, grants from Kids Brain Health Network, grants from Canadian Institutes of Health Research, grants from SickKids Foundation, grants from Cerebral Palsy Alliance Research Foundation, other from Ionis, other from Biogen, other from Roche, other from Cytokinetics, personal fees and non-financial support from American Academy of Neurology, grants from Fondation du Grand Defi Pierre Lavoie, outside the submitted work. Mr. JL reports personal fees from Biogen Canada Limited, outside the submitted work. Ms. EB has nothing to disclose. Dr. SMD has nothing to disclose. Dr. CC reports grants, personal fees, and other from Biogen, during the conduct of the study; grants, personal fees, and other from PTC Therapeutics, other from Acceleron, AMO, Catabasis, Pfizer, Sarepta, Wave, BMS, Scholar Rock, and Roche, outside the submitted work. Dr. AM reports grants from Biogen, outside the submitted work. Dr. HJM has nothing to disclose. Dr. JV has nothing to disclose. Dr. BB has nothing to disclose. Dr. KMC has nothing to disclose. Dr NC received financial support to prepare review courses about SMA for neurologists, physical therapists, and pediatricians. Dr. MC reports personal fees from Biogen, outside the submitted work. Dr. PD has nothing to disclose. Dr. SD has nothing to disclose. Dr. JJD has nothing to disclose. Dr. ND has nothing to disclose. Dr. AG reports grants from Biogen, Sanofi-Genzyme, CSL Behring, MTPA, AL-S Pharma, AB Sciences, Novartis, Wave Life Sciences, Argenx, Alexion, Avexis, Ackea, Cytokinetics, Hoffman-La Roche, outside the submitted work. Dr. HG reports personal fees from Biogen. Dr. SH has nothing to disclose. Dr. AI has nothing to disclose. Dr. WJ reports personal fees from MT Pharma Canada, other from Cytokinetics, other from Biogen, other from Orion, other from Mallinkrodt, other from Apellis, other from Alexion, other from AB Science, outside the submitted work. Dr. EL has nothing to disclose. Dr. HL reports grants and personal fees from AMO Pharma, Biogen, Desitin, GW Pharma, Pfizer, PTC Therapeutics, Roche, Santhera, Sarepta, Satellos, Ultragenyx, outside the submitted work. Dr. JKM has nothing to disclose. Dr. AM has nothing to disclose. Dr. RM has nothing to disclose. Dr. LM reports other from Italfarmaco, outside the submitted work. Dr. AM has nothing to disclose. Dr. MM has nothing to disclose. Dr. MMM reports personal fees from Genzyme, Alnylam, Pfizer, Akcea, CSL Behring, outside the submitted work. Dr. C-TEN reports other from Pfizer, other from Catabasis, outside the submitted work. Dr. COC reports personal fees from MT Pharma, grants and personal fees from Canopy Growth, personal fees from IPSEN, grants from Cytokinetics, grants from Mallincrodtk, grants from Orion, personal fees from Shoppers Drug Mart, outside the submitted work. Dr. EKOF reports personal fees from PTC Therapeutics nmDMD Advisory Board, grants from Sanofi Genzyme, grants from Acceleron, from SAnofi Genzyme, grants from Grifols, during the conduct of the study. Dr. CP has nothing to disclose. Dr. GP has nothing to disclose. Dr. SP reports other from Biogen, outside the submitted work. Dr. CP has nothing to disclose. Dr. XR has nothing to disclose. Dr. KLS has nothing to disclose. Dr. KS reports grants from Biogen/IONIS, personal fees from Biogen, outside the submitted work. Dr. JS reports personal fees from Biogen, outside the submitted work. Dr. Simard has nothing to disclose. Dr. CS reports other from Biogen, outside the submitted work. Dr. GS reports personal fees from Shire Pharmaceuticals, personal fees from Purdue Pharmaceuticals, personal fees from Janssen Pharmaceuticals, outside the submitted work. Dr. MT reports grants from Allergan, personal fees from Biogen outside the submitted work. Dr. ST has nothing to disclose. Dr. JWC has nothing to disclose. Dr. SW reports personal fees from Cytokinetics, outside the submitted work. Dr. LK reports grants from Biogen, during the conduct of the study; grants from Sanofi Genzyme, Cytokinetics, personal fees from Alexion, Novartis, Mitsubishi Tanabe, Sarepta, Biogen, CSL Behring, outside the submitted work. Publisher Copyright: Copyright © The Author(s), 2020. Published by Cambridge University Press on behalf of The Canadian Journal of Neurological Sciences Inc..

PY - 2020/11/1

Y1 - 2020/11/1

N2 - Background: Spinal muscular atrophy (SMA) is a devastating rare disease that affects individuals regardless of ethnicity, gender, and age. The first-approved disease-modifying therapy for SMA, nusinursen, was approved by Health Canada, as well as by American and European regulatory agencies following positive clinical trial outcomes. The trials were conducted in a narrow pediatric population defined by age, severity, and genotype. Broad approval of therapy necessitates close follow-up of potential rare adverse events and effectiveness in the larger real-world population. Methods: The Canadian Neuromuscular Disease Registry (CNDR) undertook an iterative multi-stakeholder process to expand the existing SMA dataset to capture items relevant to patient outcomes in a post-marketing environment. The CNDR SMA expanded registry is a longitudinal, prospective, observational study of patients with SMA in Canada designed to evaluate the safety and effectiveness of novel therapies and provide practical information unattainable in trials. Results: The consensus expanded dataset includes items that address therapy effectiveness and safety and is collected in a multicenter, prospective, observational study, including SMA patients regardless of therapeutic status. The expanded dataset is aligned with global datasets to facilitate collaboration. Additionally, consensus dataset development aimed to standardize appropriate outcome measures across the network and broader Canadian community. Prospective outcome studies, data use, and analyses are independent of the funding partner. Conclusion: Prospective outcome data collected will provide results on safety and effectiveness in a post-therapy approval era. These data are essential to inform improvements in care and access to therapy for all SMA patients.

AB - Background: Spinal muscular atrophy (SMA) is a devastating rare disease that affects individuals regardless of ethnicity, gender, and age. The first-approved disease-modifying therapy for SMA, nusinursen, was approved by Health Canada, as well as by American and European regulatory agencies following positive clinical trial outcomes. The trials were conducted in a narrow pediatric population defined by age, severity, and genotype. Broad approval of therapy necessitates close follow-up of potential rare adverse events and effectiveness in the larger real-world population. Methods: The Canadian Neuromuscular Disease Registry (CNDR) undertook an iterative multi-stakeholder process to expand the existing SMA dataset to capture items relevant to patient outcomes in a post-marketing environment. The CNDR SMA expanded registry is a longitudinal, prospective, observational study of patients with SMA in Canada designed to evaluate the safety and effectiveness of novel therapies and provide practical information unattainable in trials. Results: The consensus expanded dataset includes items that address therapy effectiveness and safety and is collected in a multicenter, prospective, observational study, including SMA patients regardless of therapeutic status. The expanded dataset is aligned with global datasets to facilitate collaboration. Additionally, consensus dataset development aimed to standardize appropriate outcome measures across the network and broader Canadian community. Prospective outcome studies, data use, and analyses are independent of the funding partner. Conclusion: Prospective outcome data collected will provide results on safety and effectiveness in a post-therapy approval era. These data are essential to inform improvements in care and access to therapy for all SMA patients.

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U2 - 10.1017/cjn.2020.111

DO - 10.1017/cjn.2020.111

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JO - Canadian Journal of Neurological Sciences

JF - Canadian Journal of Neurological Sciences

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ER -

A National Spinal Muscular Atrophy Registry for Real-World Evidence

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