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In this animation, understand how improvements in spinal muscular atrophy (SMA) care have led to the emergence of new disease phenotypes, and a need for new measurement strategies including patient-reported outcomes and biomarkers to determine disease impact and treatment effects.
In these symposium highlights, Doctors Charlotte Sumner and Jacqueline Montes discuss emerging outcome measures and biomarkers in SMA.
In this chapter, Dr Sumner outlines how improvements in SMA outcomes have raised new questions for patient care.
In this chapter, Dr Montes outlines the limitations of the current assessment tools for SMA and outlines the need for new patient reported outcomes.
In this chapter, Dr Montes outlines the importance of measuring fatigue from the patient perspective and outlines novel patient-reported outcome measures for this symptom in SMA.
In this chapter, Dr Sumner describes the current use of compound motor action potential (CMAP) amplitude in SMA, including its limitations.
In this chapter, Dr Sumner describes the current use of neurofilaments in SMA, including their limitations.
Concluding remarks from the symposium.
In SMA, newborn screening programs and the approval of treatments have led to the emergence of new SMA phenotypes.1,2 However, improved SMA outcomes raise new questions for patient care, including about measuring disease impact and treatment effects. Current functional assessments do not fully capture the patient experience of SMA, highlighting the need for evolving measurement strategies as the treatment landscape advances.3,4 Biomarkers are also required to measure treatment benefits. In this activity, watch leading experts discuss emerging patient-reported outcome measures and biomarkers for SMA.
After watching this activity, participants should be better able to:
Finkel RS, Benatar M. Pre-symptomatic spinal muscular atrophy: a proposed nosology. Brain. 2022;145(7):2247–2249.
Tizzano EF, Finkel RS. Spinal muscular atrophy: A changing phenotype beyond the clinical trials. Neuromuscul Disord. 2017;27(10):883–889.
Vázquez-Costa JF, Povedano M, Nascimiento-Osorio AE, et al. Validation of motor and functional scales for the evaluation of adult patients with 5q spinal muscular atrophy. Eur J Neurol. 2022;29(12):3666–3675.
de Lemus M, Cattinari MG, Pascual SI, et al. Identification of the most relevant aspects of spinal muscular atrophy (SMA) with impact on the quality of life of SMA patients and their caregivers: the PROfuture project, a qualitative study. J Patient Rep Outcomes. 2024;8(1):78.
Charlotte Sumner is a neurologist at Johns Hopkins University who specializes in genetically mediated neuromuscular diseases. She co-directs the Muscular Dystrophy Association Care Center and leads research on motor neuron and peripheral nerve disorders, and has also authored more than 200 peer-reviewed articles.
Received grant funding from Actio Biosciences, Biogen, and Roche; has provided consultancy services for Biogen, Roche/Genentech, and Novartis; has acted in an unpaid advisory role for Actio Biosciences, Charcot-Marie-Tooth Research Foundation, CMT Association, Cure SMA, Epirium, Kennedy’s Disease Association, Merkin Peripheral Neuropathy Center, Muscular Dystrophy Association, Nura Bio, Packard Center for ALS Research, SMA Europe, and the SMA Foundation.
Jacqueline Montes is a professor of Rehabilitation and Regenerative Medicine at Columbia University Irving Medical Center, specializing in physical therapy for neuromuscular diseases. Her research focuses on gait, fatigue, and clinical outcomes in SMA and amyotrophic lateral sclerosis. She has played a key role in developing global standards of care for SMA physical therapy and has authored numerous peer-reviewed publications.
Received research or grant support from Biogen, Cure SMA, Genentech, Scholar Rock, Muscular Dystrophy Association and National Institute of Child Health and Human Development; has received honoraria (non-CME events) from Genentech and Scholar Rock; has acted as a consultant or participated in advisory boards for Argenx, Biogen, F. Hoffman-La Roche, NMD Pharma and Scholar Rock.
This activity has been sponsored by Biogen. Biogen provided financial support and video content, and has had input into the detailed project scope. This activity is provided by Touch Medical Communications (TMC) for touchNEUROLOGY.
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Biogen provided financial support and video content, and has had input into the detailed project scope. This activity is provided by Touch Medical Communications (TMC) for touchNEUROLOGY.
Unapproved products or unapproved uses of approved products may be discussed; these situations may reflect the approval status in one or more jurisdictions. TMC has advised the sponsor to ensure that they disclose any such references made to unlabelled or unapproved use. No endorsement by TMC of any unapproved products or unapproved uses is either made or implied by mention of these products or uses in TMC activities. TMC accepts no responsibility for errors or omissions.
The views and opinions expressed are those of the faculty and do not necessarily reflect those of any sponsor.
Biogen-269294
Date of preparation: September 2025
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