A National Spinal Muscular Atrophy Registry for Real-World Evidence

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

doi:10.1017/cjn.2020.111

Cited by 11 publications

(7 citation statements)

References 35 publications

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“…The national OM toolkit can lead to improved monitoring and larger, robust datasets which are of great importance in the adult SMA population [1,2]. Operationalizing a national toolkit with a patient registry such as the Canadian Neuromuscular Disease Registry (CNDR) [11] provides a valuable data resource for clinicians and researchers to facilitate further insight into SMA [13].…”

Section: Discussionmentioning

confidence: 99%

“…adult/paediatric, gross motor/fine motor), and any additional information (such as time to completion, resources required, and references) for each of the OM ( Supplementary Table 1 ). The voting surveys were developed and delivered through both google forms (first voting round) [ 19 ] and SurveyMonkey (second voting round) [ 20 ], and were distributed through the Canadian Neuromuscular Disease Registry (CNDR) Network [ 11 ].…”

Section: Methodsmentioning

confidence: 99%

“…Given the changing therapeutic environment of SMA and the crucial need for high quality real-world data, routine use of a standardized toolkit of nationally agreed upon outcome measures (OM) will advance our ability to elucidate important patterns of disease trajectory and response to therapy, enabling a deeper understanding of both the disease and the effectiveness of emerging treatments [ 11 ]. Furthermore, the creation of a standard consensus-derived toolkit will support the development of best practices.…”

Section: Introductionmentioning

confidence: 99%

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A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method

Slayter

Hodgkinson

Lounsberry

et al. 2021

Journal of Neuromuscular Diseases

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Background: Spinal Muscular Atrophy (SMA) is a rare disease that affects 1 in 11 000 live births. Recent developments in SMA treatments have included new disease-modifying therapies that require high quality data to inform decisions around initiation and continuation of therapy. In Canada, there are no nationally agreed upon outcome measures (OM) used in adult SMA. Standardization of OM is essential to obtain high quality data that is comparable among neuromuscular clinics. Objective: To develop a recommended toolkit and timing of OM for assessment of adults with SMA. Methods: A modified delphi method consisting of 2 virtual voting rounds followed by a virtual conference was utilized with a panel of expert clinicians treating adult SMA across Canada. Results: A consensus-derived toolkit of 8 OM was developed across three domains of function, with an additional 3 optional measures. Optimal assessment frequency is 12 months for most patients regardless of therapeutic access, while patients in their first year of receiving disease-modifying therapy should be assessed more frequently. Conclusions: The implementation of the consensus-derived OM toolkit will improve monitoring and assessment of adult SMA patients, and enrich the quality of real-world evidence. Regular updates to the toolkit must be considered as new evidence becomes available.

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Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method

Slayter

Hodgkinson

Lounsberry

et al. 2021

Journal of Neuromuscular Diseases

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“…Therefore, long-term clinical follow-up of treated patients and the natural history of SMA are essential to assess the effectiveness of the treatment, particularly the improvement and/or maintenance of motor functions. Registry and multicenter observational studies of SMA that include adult patients have been reported or are ongoing in several countries [26][27][28][29][30]. At the planning and launch stage of this research, nusinersen was the only treatment option for patients with SMA in Japan.…”

Section: Introductionmentioning

confidence: 99%

The Japan Registry for Adult Subjects of Spinal Muscular Atrophy (jREACT-SMA): Protocol for a Longitudinal Observational Study

Sahashi¹,

Hashizume²,

Kuwatsuka³

et al. 2022

JMIR Res Protoc

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Background Spinal muscular atrophy (SMA) is an autosomal recessive genetic neuromuscular disorder with progressive muscle weakness and atrophy, mainly caused by lower motor neuron degeneration resulting from decreased levels of the survival motor neuron protein. Recently, 3 disease-modifying therapies for SMA (nusinersen, onasemnogene abeparvovec, and risdiplam) were approved in Japan that are expected to improve the prognosis of patients with SMA. Long-term clinical follow-up of adult patients treated with disease-modifying therapies and the natural history of SMA are essential to assess the real-world effectiveness of available treatments. Until recently, nusinersen was the only treatment option for patients with SMA in Japan; however, because Japanese approval of nusinersen was based on global clinical trials in infants and children aged 0-15 years with SMA, the effectiveness of nusinersen in adult patients has not been fully assessed in Japan. In addition, longitudinal clinical data of adult patients have not been systematically collected in Japan. Objective This longitudinal observational study of adult patients with SMA who have been diagnosed with 5q-SMA in Japan aims to gain a better understanding of the natural history of SMA, as well as the long-term effectiveness of disease-modifying therapies. Here, we describe the protocol for the study. Methods The Japan Registry for Adult Subjects of Spinal Muscular Atrophy (jREACT-SMA) study is a longitudinal (prospective and retrospective) observational study with a 60-month prospective follow-up being conducted at 19 investigational sites using the newly established jREACT-SMA registry. Patients aged ≥18 years with genetically confirmed 5q-SMA were planned to be enrolled in the registry from December 2020 to May 2022. The planned enrollment was 100 patients. The protocol was approved on September 28, 2020 (approval 2020-0289) by the ethical review committee of Nagoya University. Registration, demographics, genetic diagnosis, motor functions, patient-reported outcomes/quality-of-life outcomes, and other clinical data have been or will be collected. Results As of May 2022, 113 patients had been enrolled, and the completion of patient registration has been extended from May 2022 to December 2022. Data at registration and during the follow-up period were and will be prospectively collected at least once a year until November 2025 (maximum 60 months). Data analyses will be conducted when all data have been collected. Results are expected to be available in 2026 and the study is expected to be completed by March 2027. Conclusions This jREACT-SMA study will provide longitudinal prospective follow-up data in adult patients with SMA in Japan, including data on the natural history of the disease and data on the long-term effectiveness of disease-modifying therapies. Trial Registration University Hospital Medical Information Network Center Clinical Trials Registry UMIN000042015; https://rctportal.niph.go.jp/en/detail?trial_id=UMIN000042015 International Registered Report Identifier (IRRID) DERR1-10.2196/38878

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“…Ultimately, it will be the payors who determine whether patients with SMA have access to more than one therapy. Clinicians and researchers who advise patients or appeal to payors have an obligation to learn as much as we can about the relative risks and benefits of combining these therapies including collection of real‐world data through registries and reports such as the one presented here 15‐19 …”

mentioning

confidence: 99%

Combination molecular therapies for spinal muscular atrophy: How much is enough?

Mathews

Iannaccone

2020

Muscle and Nerve

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A National Spinal Muscular Atrophy Registry for Real-World Evidence

Cited by 11 publications

References 35 publications

A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method

A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method

The Japan Registry for Adult Subjects of Spinal Muscular Atrophy (jREACT-SMA): Protocol for a Longitudinal Observational Study

Combination molecular therapies for spinal muscular atrophy: How much is enough?

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