The New Picture of Spinal Muscular Atrophy: Testing, Treatments, and Transitions


While still deemed a rare disorder, spinal muscular atrophy (SMA) is one of the most commonly occurring of the rare disease category and, until the recent advent of targeted therapies, was the most frequent genetic cause of mortality of children under the age of 2. Historically, patients with SMA had a poor prognosis with the most common form (type I) typically unable to survive past the first few years of life. However, the past few years have been revolutionary for this disease, with the widespread adoption of SMA on newborn screening panels and the arrival of three new therapeutic options.

While the increased survival and longevity brought on by novel therapeutics is a remarkable achievement, it also extends and alters the needs of these patients as they manage their disease for a greater number of years, including well into adulthood. Unfortunately, without significant historical involvement in SMA, adult providers are largely unfamiliar with and ill prepared to manage it. To illustrate the changing expectations of SMA care and help streamline the journey to adulthood, this activity employs expert representatives of both child and adult management of SMA to discuss key considerations for their own patient cases across phenotypes. Through these scenarios, learners will gain a more comprehensive understanding of the full care picture and how they can best refine their own strategies to maximize long-term management of SMA.

Target Audience

The target audience for this CME initiative includes adult and pediatric neurologists and other healthcare professionals involved in the diagnosis and long-term management of patients with SMA.

Learning Objectives

Upon completion of the educational activity, participants should be able to:

  • ​​​​​​Recognize the spectrum of symptoms of SMA across phenotypes/age groups in order to refer appropriate patients for genetic testing and diagnose these individuals early.
  • Discuss the patient selection for and phase 3 data with available therapies for the treatment of SMA as well as their ongoing evaluation in broadening patient populations to better identify how and for whom each agent should be utilized.
  • Describe unique considerations in the long-term management of treatment-era patients with SMA (e.g., care transitions, therapeutic monitoring, multidisciplinary referrals) in order to ensure uninterrupted and comprehensive continued care throughout their lifespans.
Course summary
Available credit: 
  • 1.00 AMA PRA Category 1 Credit™
  • 1.00 Attendance
Course opens: 
Course expires: 
 John Brandsema, MD (Moderator & Chair)
 Child Neurologist
 Neuromuscular Section Head
 Children’s Hospital of Philadelphia
 Philadelphia, PA
 Diana Castro, MD
 Child Neurologist and Neuromuscular Physician
 Founder and Director
 Neurology & Neuromuscular Care Center
 Denton, TX
 Perry Shieh, MD, PhD
 Professor of Neurology and Pediatrics
 David Geffen School of Medicine
 University of California
 Los Angeles, CA

This activity is jointly provided by Medical Education Resources (MER) and Efficient LLC.



Accreditation Statement

In support of improving patient care, this activity has been planned and implemented by Medical Education Resources (MER) and Efficient LLC. MER is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Designation Statement

Medical Education Resources designates this enduring material for a maximum of 1.0 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
A Certificate of Participation will be given upon completion of the activity enabling participants to register their credit with the appropriate licensing boards or associations.

Disclosure of Financial Relationships

MER requires instructors, planners, managers, and other individuals who are in a position to control the content of this activity to disclose any real or apparent conflict of interest (COI) they may have as related to the content of this activity. All relevant financial relationships have been mitigated by MER. MER is committed to providing its learners with high quality activities and related materials that promote improvements or quality in healthcare and not a specific proprietary business interest of a commercial interest.

Planners' and Managers' Disclosure

Efficient LLC and Medical Education Resources' planners and managers have no financial relationships to disclose.

Faculty Disclosure

Dr Brandsema reported the following financial relationships:

  • Grants/Research Support: Alexion, Argenx, Astellas, AveXis/Novartis, Biogen, CSL Behring, Fibrogen, Genentech, Momenta/Janssen, Pfizer, PTC Therapeutics, Sarepta
  • Consulting Fees: Argenx, AveXis/Novartis, Biogen, Fibrogen, Genentech, Momenta/Janssen, NS Pharma, Pfizer, PTC Therapeutics, Sarepta, Scholar Rock

Dr Castro reported the following financial relationships:

  • Grants/Research Support: Biogen, SRK
  • Consulting Fees: Biogen, Genentech, Novartis

Dr Shieh reported the following financial relationships:

  • Grants/Research Support: Biogen, Catalyst, Fulcrum, Genentech, Novartis, Pfizer, Sarepta, Solid
  • Consulting Fees: Alexion, Argenx, Biogen, Genentech, Novartis, Pfizer, Sanofi
  • Speakers’ Bureau: Alexion, Argenx, Biogen, Catalyst, CSL Behring, Genentech, Grifols

Disclosure of Unlabeled Use/Disclaimer

This educational activity may contain discussion of published and/or investigational uses of agents that are not indicated by the FDA. The planners of this activity do not recommend the use of any agent outside of the labeled indications. The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of the planners. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.


The content and views presented in this educational activity are those of the authors and do not necessarily reflect those of Medical Education Resources, Efficient LLC, and/or Biogen and Genentech. The authors have disclosed if there is any discussion of published and/or investigational uses of agents that are not indicated by the FDA in their presentations. Before prescribing any medicine, primary references and full prescribing information should be consulted. Any procedures, medications, or other courses of diagnosis or treatment discussed or suggested in this activity should not be used by clinicians without evaluation of their patient’s conditions and possible contraindications on dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities. The information presented in this activity is not meant to serve as a guideline for patient management.

Commercial Support

This continuing education activity is supported by educational grants from Biogen and Genentech, a member of the Roche Group.

Available Credit

  • 1.00 AMA PRA Category 1 Credit™
  • 1.00 Attendance


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