Paediatrics CE/CME ACCREDITED Watch Time: 35 mins

touchTALKS Identifying, diagnosing and treating patients with later-onset SMA

Dr Julie Parsons reviews the diagnosis and approved treatments for later-onset SMA, highlighting their impact on the natural history of SMA.

 
Video Chapters
Diagnosis of SMA in older adolescent and adult populations

Dr Julie Parsons describes the pathophysiology and clinical presentation of SMA, highlighting the considerations for differential diagnosis and the reasons for delayed diagnosis of patients with SMA type 3 and type 4.

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Overview of disease-modifying therapies and available data on their use in patients with later-onset SMA

Dr Julie Parsons reviews the mechanisms of action of approved therapies for SMA and summarizes key clinical trial results in children and adults.

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The natural history of SMA and how this is changing with disease-modifying therapies

Dr Julie Parsons reviews the natural history of SMA and explains how available treatments are changing the course of disease by improving motor function and delaying disease progression.

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Learning Objectives & Overview
Overview

In this activity, Dr Julie Parsons, a leading expert in spinal muscular atrophy (SMA), discusses the clinical presentation and diagnosis of later-onset phenotypes of SMA, before reviewing clinical trial data for approved treatments and how they can change the natural history of the disease.

This activity is jointly provided by USF Health and touchIME. read more

Target Audience

This activity has been designed to meet the educational needs of general and community neurologists, paediatric neurologists, paediatricians, primary care providers (PCP), neurology nurses and pulmonologists, who may be involved in the diagnosis and/or management of patients with SMA and practice in the USA.

Disclosures

USF Health adheres to the Standards for Integrity and Independence in Accredited Continuing Education. All individuals in a position to influence content have disclosed to USF Health any financial relationship with an ineligible organization. USF Health has reviewed and mitigated all relevant financial relationships related to the content of the activity. The relevant relationships are listed below. All individuals not listed have no relevant financial relationships.

Faculty

Dr Julie Parsons discloses: Advisory board or panel fees from Biogen, Genentech, Novartis and Scholar Rock. Grants/research support from Biogen, Novartis and Scholar Rock.

Content reviewer

Angela M. Hill, PharmD has no financial interests/relationships or affiliations in relation to this activity.

Touch Medical Director

Adriano Boasso and Hannah Fisher have no financial interests/relationships or affiliations in relation to this activity.

USF Health Office of Continuing Professional Development and touchIME staff have no financial interests/relationships or affiliations in relation to this activity.

Requirements for Successful Completion

In order to receive credit for this activity, participants must review the content and complete the post-test and evaluation form. Statements of credit are awarded upon successful completion of the post-test and evaluation form.

If you have questions regarding credit please contact cpdsupport@usf.edu. 

Accreditations

Physicians

This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through a joint providership of USF Health and touchIME. USF Health is accredited by the ACCME to provide continuing medical education for physicians.

USF Health designates this enduring material for a maximum of 0.75 AMA PRA Category 1 CreditTM.  Physicians should claim only the credit commensurate with the extent of their participation in the activity.

The European Union of Medical Specialists (UEMS) – European Accreditation Council for Continuing Medical Education (EACCME) has an agreement of mutual recognition of continuing medical education (CME) credit with the American Medical Association (AMA). European physicians interested in converting AMA PRA Category 1 CreditTM into European CME credit (ECMEC) should contact the UEMS (www.uems.eu)

Advanced Practice Providers

Physician Assistants may claim a maximum of 0.75 Category 1 credits for completing this activity. NCCPA accepts AMA PRA Category 1 CreditTM from organizations accredited by ACCME or a recognized state medical society.

The AANPCP accepts certificates of participation for educational activities approved for AMA PRA Category 1 CreditTM by ACCME-accredited providers. APRNs who participate will receive a certificate of completion commensurate with the extent of their participation.

Date of original release: 6 April 2022. Date credits expire: 6 April 2023.

If you have any questions regarding credit please contact cpdsupport@usf.edu.

Learning Objectives

After watching this activity, participants should be better able to:

  • Recall possible symptoms of SMA in adolescent and adult patients and relevant differential diagnostic tests
  • Appraise the role of current and future treatment approaches for improving outcomes in patients with older-onset SMA
  • Evaluate how the natural history of SMA is evolving with the use of disease-modifying therapies
Faculty & Disclosures
Dr Julie Parsons

University of Colorado School of Medicine, Aurora, CO, USA

Dr Julie Parsons is Professor of Clinical Pediatrics and Neurology at the University of Colorado School of Medicine in Aurora, CO, USA. read more

She holds the Haberfeld Family Endowed Chair in Pediatric Neuromuscular Disorders and is co-director of the Neuromuscular Clinic at the Children’s Hospital Colorado. 

Dr Parsons has an enduring interest in medical education and served as the director of the child neurology residency programme for 9 years. 

Dr Parsons’ clinical interests include a wide range of neuromuscular diseases, such as muscular dystrophies, spinal muscular atrophy and myotonic dystrophies. She is an active participant and principal investigator for several clinical trials.

Dr Julie Parsons discloses: Advisory board or panel fees from Biogen, Genentech, Novartis and Scholar Rock. Grants/research support from Biogen, Novartis and Scholar Rock.

Downloads

View and download resources from this activity to support your learning and share with colleagues

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Question 1/5
You have been asked to assess a 22-year-old man who is concerned because he is having frequent falls. He is also complaining of cramping in his arms, is experiencing difficulty with swallowing and has an asymmetric presentation of weakness. In addition to SMA type 4, which of the following conditions should you consider in the differential diagnosis?

SMA, spinal muscular atrophy.
Correct

SMA type 4 can be difficult to distinguish from other late-onset motor neuron disorders, such as amyotrophic lateral sclerosis and Kennedy disease (X-linked spinobulbar muscular atrophy). These diseases usually show a different topography to SMA type 4, with asymmetric muscle involvement and bulbar weakness.

Abbreviation

SMA, spinal muscular atrophy. 

Reference

Salort-Campana E, Quijano-Roy S. Arch Pediatr. 2020;27:7S23–8.

Question 2/5
Based on FDA approvals, which treatment options can you consider for adolescent patients with SMA?

FDA, Food and Drug Administration; SMA, spinal muscular atrophy.
Correct

Risdiplam is approved by the FDA for all patients with SMA who are ≥2 months of age1 and nusinersen is approved for paediatric and adult patients2.

Abbreviations

FDA, Food and Drug Administration; SMA, spinal muscular atrophy.

References

  1. FDA. Risdiplam. Prescribing information. Available at: www.accessdata.fda.gov/drugsatfda_docs/label/2020/213535s000lbl.pdf (accessed 1 March 2022).
  2. FDA. Nusinersen. Prescribing information. Available at: www.accessdata.fda.gov/drugsatfda_docs/label/2016/209531lbl.pdf (accessed 1 March 2022).
Question 3/5
Based on observational data for nusinersen, which of the following statements about treatment outcomes for adolescents and adults with SMA type 2 and type 3 following 14 months’ treatment is correct?

SMA, spinal muscular atrophy.
Correct

In an observational study involving adults with SMA (n=139) aged 16–65 years, 40% (23/57) of patients demonstrated clinically meaningful improvements in motor function following 14 months’ treatment with nusinersen.

Abbreviation

SMA, spinal muscular atrophy. 

Reference

Hagenacker T, et al. Lancet Neurol. 2020;19:317–25.

Question 4/5
When monitoring disease progression in adults with later-onset SMA (type 4), which of the following aspects of physical functioning is more likely to remain stable over time?

SMA, spinal muscular atrophy.
Correct

A cross-sectional study of the natural history of lung function in 170 patients with SMA types 1–4 observed a progressive decline in lung function in the patients with more severe SMA phenotypes. However, in adults with a mild SMA phenotype (type 4), the data suggested that lung function may be more stable than skeletal muscle strength.

Abbreviation

SMA, spinal muscular atrophy.

Reference

Wijngaarde CA, et al. Orphanet J Rare Dis. 2020;15:88.

Question 5/5
You are discussing treatment risks and benefits for a 14-year-old boy with SMA type 3 who is considering initiating treatment with nusinersen. He and his parents ask you how he can expect the course of his disease to change if the treatment works. What do you tell them?

SMA, spinal muscular atrophy.
Correct

In a real-world observational study evaluating the effect of nusinersen on motor function in patients with SMA types 2 and 3 (n=30, mean age 10.6 years; SMA type 2, n=14), mean changes in HFMSE scores after 12- and 24- months’ treatment were +1.47 and +1.60 points, respectively. 

In contrast, motor function declined in patients in the control group (n=37, mean age 10.2 years; SMA type 2, n=20) and mean changes in HFMSE scores after 12- and 24- months’ treatment were -1.71 and -3.93 points, respectively. 

Abbreviations

HFMSE, Hammersmith Functional Motor Scale—Expanded; SMA, spinal muscular atrophy.

Reference

Mendonça, RH, et al. J Neuromuscul Dis. 2021;8;101–8.

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