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Why this topic matters Autoimmune psychosis (AP) is conceptualized as a psychosis-dominant form of autoimmune encephalitis (AE). In contrast to ‘typical’ AE, in which seizures, impaired consciousness and focal deficits rapidly declare a neurological syndrome, patients with AP can initially present to psychiatric services with apparently isolated psychotic or mood symptoms. Overt neurological signs may […]

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Elevating expectations in SMA care: optimizing patient outcomes and evolving measurement strategies in SMA

Topics Covered:
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Emerging patient outcome measures and biomarkers for SMA

Symposium welcome and introduction

The need for evolving measurement strategies in SMA

The importance of patient-reported outcomes for SMA

The importance of measuring fatigability in SMA

The evolving role of CMAP in SMA

The evolving role of neurofilaments in SMA

Key take home messages

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Animated Video

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.
Duration: 4:26

Emerging patient outcome measures and biomarkers for SMA

Duration: 4:26

Symposium Video

Learn from leading experts about emerging outcome measures and biomarkers in SMA.
Duration: 44:29

Symposium welcome and introduction

Dr Charlotte Sumner & Dr Jacqueline Montes
Start Time: 0:00

The need for evolving measurement strategies in SMA

Dr Charlotte Sumner
Start Time: 2:52

The importance of patient-reported outcomes for SMA

Dr Jacqueline Montes
Start Time: 5:29

The importance of measuring fatigability in SMA

Dr Jacqueline Montes
Start Time: 12:57

The evolving role of CMAP in SMA

Dr Charlotte Sumner
Start Time: 22:49

The evolving role of neurofilaments in SMA

Dr Charlotte Sumner
Start Time: 31:04

Key take home messages

Start Time: 43:37

Activity Overview

Faculty & Disclosures

Activity Overview
Faculty & Disclosures

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.

  • Reflect on progress in SMA care over the last decade and the need for evolving measurement strategies as the treatment landscape advances
  • Discuss the importance of patient-reported outcomes in SMA and leading innovations in capturing patient experience, specifically fatigability
  • Summarize existing biomarkers in SMA and discuss the evolving use of neurofilaments and electrophysiology in clinical research
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1

Finkel RS, Benatar M. Pre-symptomatic spinal muscular atrophy: a proposed nosology. Brain. 2022;145(7):2247–2249.

2

Tizzano EF, Finkel RS. Spinal muscular atrophy: A changing phenotype beyond the clinical trials. Neuromuscul Disord. 2017;27(10):883–889.

3

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.

4

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 J Sumner, MD

Johns Hopkins University School of Medicine, Baltimore, MD, USA
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Charlotte J Sumner, MD

Johns Hopkins University School of Medicine, Baltimore, MD, USA
USA

Biography

Disclosures

Jacqueline Montes, PT, EdD

Columbia University Irving Medical Center, New York, NY, USA

Jacqueline Montes, PT, EdD

Columbia University Irving Medical Center, New York, NY, USA
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Jacqueline Montes, PT, EdD

Columbia University Irving Medical Center, New York, NY, USA
USA

Biography

Disclosures

Charlotte J Sumner, MD

Johns Hopkins University School of Medicine, Baltimore, MD, USA

Video Navigation

Animated Video

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.
Duration: 4:26

Emerging patient outcome measures and biomarkers for SMA

Duration: 4:26

Symposium Video

Learn from leading experts about emerging outcome measures and biomarkers in SMA.
Duration: 44:29

Symposium welcome and introduction

Dr Charlotte Sumner & Dr Jacqueline Montes
Start Time: 0:00

The need for evolving measurement strategies in SMA

Dr Charlotte Sumner
Start Time: 2:52

The importance of patient-reported outcomes for SMA

Dr Jacqueline Montes
Start Time: 5:29

The importance of measuring fatigability in SMA

Dr Jacqueline Montes
Start Time: 12:57

The evolving role of CMAP in SMA

Dr Charlotte Sumner
Start Time: 22:49

The evolving role of neurofilaments in SMA

Dr Charlotte Sumner
Start Time: 31:04

Key take home messages

Start Time: 43:37

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