Spinal muscular atrophy, Neuromuscular Diseases, Rare Diseases CE/CME ACCREDITED Watch Time: 36 mins

touchPANEL DISCUSSION Considerations for the selection of disease-modifying treatments in SMA: A case-based discussion

Three SMA experts use patient case studies to discuss factors influencing treatment decision-making with approved SMA therapies.

Prof. Eugenio Mercuri

Policlinico Universitario Agostino Gemelli, Rome, Italy

CHAIR

Panelists:
Prof. Nathalie Goemans, Prof. Dr. med. Tim Hagenacker
 
Video Chapters
Introduction and overview of approved therapies for SMA

Prof. Eugenio Mercuri introduces the panel and provides an overview of the mechanisms of action, indications and adverse events for the three approved disease-modifying agents for SMA.

view bio and disclosures
1/4 Next Chapter
 
Case study 1: Treatment selection for a 3-month-old infant

The expert panel discusses factors influencing the choice of therapeutic agent for a symptomatic 3-month-old infant with SMA, including the practicalities of treatment administration and potential adverse events that must be considered.

view bio and disclosures
2/4 Next Chapter
 
Case study 2: Treatment selection for a 3-year-old child

The expert panel discusses benefit–risk profiles for SMA treatments in the context of a 3-year-old child, with a focus on treatment goals and the importance of managing parental expectations regarding outcomes.

view bio and disclosures
3/4 Next Chapter
 
Case study 3: Treatment selection for an 18-year-old young adult

The expert panel discusses treatment choices for a young female adult with SMA. They cover the importance of understanding the patient’s personal circumstances as part of establishing a treatment choice, and the role of real-world evidence for predicting treatment outcomes and understanding potential treatment risks.

view bio and disclosures
4/4 Take CE/CME Test
Take CE/CME Test
Learning Objectives & Overview
Overview

In this activity, leading experts in spinal muscular atrophy (SMA) review the range of factors influencing treatment decision-making in the context of three different patients with SMA—an infant, a toddler and a young adult. They cover benefit–risk profiles for the approved treatments, relevant practical considerations for each patient context and factors to discuss with the parents/patient as part of the shared treatment decision-making process.

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 neurologists and paediatric neurologists who are involved in the management of spinal muscular atrophy.

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

Prof. Eugenio Mercuri discloses: Advisory board or panel fees from Biogen, Novartis, Roche and Scholar Rock. Grants/research support from Biogen.

Prof. Nathalie Goemans discloses: Advisory board or panel fees from Novartis. Speaker’s bureau fees from Biogen, PI Healthcare and Roche.

Prof. Tim Hagenacker discloses: Advisory board or panel fees from Alexion, Alnylam, Biogen, Hormosan, Roche, Sanofi-Genzyme and TTR. Consultant fees from Biogen and Roche. Grants/research support from Biogen, Novartis and Roche. Speaker’s bureau fees from Alexion, Biogen, Hormosan, Novartis and Roche.

Content reviewer

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

Touch Medical Director

Hannah Fisher has 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: 28 April 2022. Date credits expire: 28 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 the licensed indications for available disease-modifying therapies for SMA
  • Discuss factors which may impact treatment selection for individual patients with SMA
  • Summarize benefit–risk profiles for approved treatments with respect to different SMA phenotypes at the time of diagnosis and into the future
Faculty & Disclosures
Prof. Eugenio Mercuri

Policlinico Universitario Agostino Gemelli, Rome, Italy

Prof. Eugenio Mercuri is Professor of Pediatric Neurology and Head of the Pediatric Neurology Unit at the Policlinico Universitario Agostino Gemelli, Rome, Italy. read more

Prof. Mercuri helped establish a paediatric neuromuscular programme at the Policlinico at the Università Cattolica del Sacro Cuore. His areas of interest include neonatal neurology and the clinical and molecular/genetic aspects of childhood neuromuscular diseases. He has particular interest in improving multidisciplinary care and establishing standards of care for congenital muscular dystrophies and myopathies. His group has published extensively on the natural history of Duchenne muscular dystrophy and SMA, and on approved therapies for these diseases.

Prof. Mercuri reviews for a number of national and international funding organizations and journals. He also serves on the editorial boards for a number of journals, including Neuromuscular Disorders, Annals of Neurology and Developmental Medicine & Child Neurology.

Prof. Eugenio Mercuri discloses: Advisory board or panel fees from Biogen, Novartis, Roche and Scholar Rock. Grants/research support from Biogen.

Prof. Nathalie Goemans

UZ Leuven, Leuven, Belgium

Prof. Nathalie Goemans is Emeritus Head of the Neuromuscular Reference Centre for Children at UZ Leuven in Leuven, Belgium. read more

Prof. Goemans has a special interest in patient/disease registries aimed at describing current natural history, improving standards of care and providing post-marketing data for therapeutic agents.

She is involved in both translational and clinical research into neuromuscular disorders, including the development of outcome measures to assess the effectiveness of interventions for these diseases. She is also a principal investigator in a number of registration-directed, industry-sponsored, phase I, II and III clinical trials exploring the safety and efficacy of new compounds for Duchenne muscular dystrophy and SMA.

Prof. Nathalie Goemans discloses: Advisory board or panel fees from Novartis. Speaker’s bureau fees from Biogen, PI Healthcare and Roche. 

Prof. Dr. med. Tim Hagenacker

Essen University Hospital, Essen, Germany

Prof. Tim Hagenacker is Head of the Neuromuscular Section of the Department of Neurology at Essen University Hospital in Essen, Germany. read more

Prof. Hagenacker heads a basic research group investigating diseases of the peripheral nervous system and neuropathic pain. His clinical focus is on neuromuscular junction disorders, amyotrophic lateral sclerosis, myositis, SMA and clinical neurophysiology. He has numerous publications in these areas.

Prof. Tim Hagenacker discloses: Advisory board or panel fees from Alexion, Alnylam, Biogen, Hormosan, Roche, Sanofi-Genzyme and TTR. Consultant fees from Biogen and Roche. Grants/research support from Biogen, Novartis and Roche. Speaker’s bureau fees from Alexion, Biogen, Hormosan, Novartis and Roche.

Downloads

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

Register to touchNEUROLOGY for FREE
  • Peer-reviewed journals and expert opinions
  • Interactive CME and e-learning modules
  • Video conference highlights
Register For Free Now

This content is intended for healthcare professionals outside of the US.

Accept Decline
CE/CME Test (0.75 Points) Close
CE/CME Test

To obtain the CME credit(s), please complete this post-test. Please complete and click to see your results and continue.

Question 1/5
Based on EU approvals, which treatment options can you consider for a 5-year-old child diagnosed with 5q SMA with 3 SMN2 back-up gene copies?

SMA, spinal muscular atrophy; SMN, survival motor neuron.
Correct

Nusinersen is indicated for anyone with 5q SMA,1 while risdiplam is indicated for patients ≥2 months of age with a clinical diagnosis of SMA types 1–3 or with 1–4 SMN2 back-up gene copies.2 Onasemnogene abeparvovec is indicated for patients with 5q SMA with a clinical diagnosis of SMA type 1, or up to 3 copies of the SMN2 back-up gene. Additionally, dosing recommendations are provided for patients that weigh 2.6–21.0 kg.3 

 

Abbreviations

SMA, spinal muscular atrophy; SMN, survival motor neuron.

References

  1. EMA. Nusinersen. Summary of product characteristics. Available at: www.ema.europa.eu/en/medicines (accessed 14 April 2022).
  2. EMA. Risdiplam. Summary of product characteristics. Available at: www.ema.europa.eu/en/medicines (accessed 14 April 2022).
  3. EMA. Onasemnogene abeparvovec. Summary of product characteristics. Available at: www.ema.europa.eu/en/medicines (accessed 14 April 2022).
Question 2/5
You are discussing treatment options with the parents of a 3-month-old infant with SMA and 3 copies of the SMN2 back-up gene. The parents are trying to choose between nusinersen, onasemnogene abeparvovec and risdiplam. What do you tell them about dosing as part of the treatment discussion?

SMA, spinal muscular atrophy; SMN, survival motor neuron.
Correct

Following four loading doses (days 0, 14, 28, 63), nusinersen is administered every 4 months as an intrathecal bolus injection by lumbar puncture.1 Onasemnogene abeparvovec is administered as a single-dose intravenous infusion.2 Risdiplam is taken orally once a day.3

References

  1. EMA. Nusinersen. Summary of product characteristics. Available at: www.ema.europa.eu/en/medicines (accessed 14 April 2022).
  2. EMA. Onasemnogene abeparvovec. Summary of product characteristics. Available at: www.ema.europa.eu/en/medicines (accessed 14 April 2022).
  3. EMA. Risdiplam. Summary of product characteristics. Available at: www.ema.europa.eu/en/medicines (accessed 14 April 2022).
Question 3/5
You are initiating nusinersen treatment in one of your patients. Which of the following adverse events do you need to monitor for, once treatment has commenced?
Correct

There is a risk of AEs associated with the lumbar puncture procedure used to administer nusinersen (e.g. headache, back pain, vomiting).1 Additionally, there have been reports of hydrocephalus in the post-marketing setting.1 There could also be a risk of AEs associated with ASOs more generally.1 

Hepatotoxicity is a common AE associated with onasemnogene abeparvovec.2 

Urinary tract infection and diarrhoea are common/very common AEs associated with risdiplam.3

 

Abbreviations

AE, adverse event; ASO, antisense oligonucleotides.

References

  1. EMA. Nusinersen. Summary of product characteristics. Available at: www.ema.europa.eu/en/medicines (accessed 14 April 2022). 
  2. EMA. Onasemnogene abeparvovec. Summary of product characteristics. Available at: www.ema.europa.eu/en/medicines (accessed 14 April 2022). 
  3. EMA. Risdiplam. Summary of product characteristics. Available at: www.ema.europa.eu/en/medicines (accessed 14 April 2022).
Question 4/5
You are discussing treatment options with the parents of a newborn baby. Results from the newborn screening programme indicate 5q SMA with 2 copies of the SMN2 back-up gene. The infant is currently asymptomatic, and the parents are unsure what to do and are particularly worried about treatment-related harm. What do you advise?

SMA, spinal muscular atrophy; SMN, survival motor neuron.
Correct

Infants with 5q SMA and 2 copies of the SMN2 back-up gene will have an SMA type 1 phenotype.1 Symptom onset occurs within the first 6 months of life, and without treatment and ventilator support, life expectancy is less than 2 years.2 Experts agree that treatment should be initiated immediately in infants with 2 or 3 SMN2 copies with or without symptoms.2 The risks of onasemnogene abeparvovec administration might be serious if not anticipated and recognized early, but they can be managed through diligent standard of care.3 In the case of nusinersen, a systematic review concluded that the proportion of children experiencing AEs and SAEs is no higher than in those treated with a sham procedure, where patients in the control group underwent the same procedure as the patients treated with nusinersen.4

 

Abbreviations

AE, adverse event; SAE, serious adverse event; SMA, spinal muscular atrophy; SMN, survival motor neuron. 

References

  1. Keinath MC, et al. Appl Clin Genet. 2021;14:11–25.
  2. Schorling DC, et al. J Neuromuscul Dis. 2020;7:1–13.
  3. Day JW, et al. Drug Saf. 2021;44:1109–19.
  4. Wadman RI, et al. Cochrane Database Syst Rev. 2019;12:CD006281.
Question 5/5
An ambulant 18-year-old with SMA has just started treatment with risdiplam. He asks you what he should expect from treatment. What do you tell him?

SMA, spinal muscular atrophy.
Correct

In the SUNFISH clinical trial, which included patients aged 2–25 years with SMA type 2 or non-ambulant type 3, risdiplam resulted in a significant improvement in motor function versus placebo. Exploratory subgroup analyses (2–5 years, 6–11 years, 12–17 years and 18–25 years) showed that motor function was generally improved in younger individuals (<18 years of age) and stabilized in older individuals (18–25 years of age).

 

Abbreviation

SMA, spinal muscular atrophy.

Reference

Mercuri E, et al. Lancet Neurol. 2022;21:42–52.

Post Test Feedback Close
Step 1: Post CE/CME Test Feedback

Please note this feedback form is compulsory to complete your CE/CME evaluation

* = Mandatory Field

Please complete this short online feedback form.
Please indicate how well each statement met your expectations.

Accreditation Close
Accreditation

Please provide your details so that we can send you your certificate, which will be emailed to the address provided. All fields are required.

* = Mandatory Field
Your Accreditation Close
Copied to clipboard!
accredited arrow-down-editablearrow-downarrow_leftarrow-right-bluearrow-right-dark-bluearrow-right-greenarrow-right-greyarrow-right-orangearrow-right-whitearrow-right-bluearrow-up-orangeavatarcalendarchevron-down consultant-pathologist-nurseconsultant-pathologistcrosscrossdownloademailexclaimationfeedbackfiltergraph-arrowinterviewslinkmdt_iconmenumore_dots nurse-consultantpadlock patient-advocate-pathologistpatient-consultantpatientperson pharmacist-nurseplay_buttonplay-colour-tmcplay-colourAsset 1podcastprinter scenerysearch share single-doctor social_facebooksocial_googleplussocial_instagramsocial_linkedin_altsocial_linkedin_altsocial_pinterestlogo-twitter-glyph-32social_youtubeshape-star (1)tick-bluetick-orangetick-red tick-whiteticktimetranscriptup-arrowwebinar Sponsored Department Location NEW TMM Corporate Services Icons-07NEW TMM Corporate Services Icons-08NEW TMM Corporate Services Icons-09NEW TMM Corporate Services Icons-10NEW TMM Corporate Services Icons-11NEW TMM Corporate Services Icons-12Salary £ TMM-Corp-Site-Icons-01TMM-Corp-Site-Icons-02TMM-Corp-Site-Icons-03TMM-Corp-Site-Icons-04TMM-Corp-Site-Icons-05TMM-Corp-Site-Icons-06TMM-Corp-Site-Icons-07TMM-Corp-Site-Icons-08TMM-Corp-Site-Icons-09TMM-Corp-Site-Icons-10TMM-Corp-Site-Icons-11TMM-Corp-Site-Icons-12TMM-Corp-Site-Icons-13TMM-Corp-Site-Icons-14TMM-Corp-Site-Icons-15TMM-Corp-Site-Icons-16TMM-Corp-Site-Icons-17TMM-Corp-Site-Icons-18TMM-Corp-Site-Icons-19TMM-Corp-Site-Icons-20TMM-Corp-Site-Icons-21TMM-Corp-Site-Icons-22TMM-Corp-Site-Icons-23TMM-Corp-Site-Icons-24TMM-Corp-Site-Icons-25TMM-Corp-Site-Icons-26TMM-Corp-Site-Icons-27TMM-Corp-Site-Icons-28TMM-Corp-Site-Icons-29TMM-Corp-Site-Icons-30TMM-Corp-Site-Icons-31TMM-Corp-Site-Icons-32TMM-Corp-Site-Icons-33TMM-Corp-Site-Icons-34TMM-Corp-Site-Icons-35TMM-Corp-Site-Icons-36TMM-Corp-Site-Icons-37TMM-Corp-Site-Icons-38TMM-Corp-Site-Icons-39TMM-Corp-Site-Icons-40TMM-Corp-Site-Icons-41TMM-Corp-Site-Icons-42TMM-Corp-Site-Icons-43TMM-Corp-Site-Icons-44TMM-Corp-Site-Icons-45TMM-Corp-Site-Icons-46TMM-Corp-Site-Icons-47TMM-Corp-Site-Icons-48TMM-Corp-Site-Icons-49TMM-Corp-Site-Icons-50TMM-Corp-Site-Icons-51TMM-Corp-Site-Icons-52TMM-Corp-Site-Icons-53TMM-Corp-Site-Icons-54TMM-Corp-Site-Icons-55TMM-Corp-Site-Icons-56TMM-Corp-Site-Icons-57TMM-Corp-Site-Icons-58TMM-Corp-Site-Icons-59TMM-Corp-Site-Icons-60TMM-Corp-Site-Icons-61TMM-Corp-Site-Icons-62TMM-Corp-Site-Icons-63TMM-Corp-Site-Icons-64TMM-Corp-Site-Icons-65TMM-Corp-Site-Icons-66TMM-Corp-Site-Icons-67TMM-Corp-Site-Icons-68TMM-Corp-Site-Icons-69TMM-Corp-Site-Icons-70TMM-Corp-Site-Icons-71TMM-Corp-Site-Icons-72