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. 2024 Aug;14(4):e200310.
doi: 10.1212/CPJ.0000000000200310. Epub 2024 May 24.

Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations

Mary Schroth  1 , Jennifer Deans  1 , Kapil Arya  1 , Diana Castro  1 , Darryl C De Vivo  1 , Melissa A Gibbons  1 , Cristian Ionita  1 , Nancy L Kuntz  1 , Arpita Lakhotia  1 , Erin Neil Knierbein  1 , Mariacristina Scoto  1 , Thomas Sejersen  1 , Laurent Servais  1 , Cuixia Tian  1 , Megan A Waldrop  1 , Juan F Vázquez-Costa  1
Affiliations

Spinal Muscular Atrophy Update in Best Practices: Recommendations for Diagnosis Considerations

Mary Schroth et al. Neurol Clin Pract. 2024 Aug.

Erratum in

Abstract

Background and objectives: Spinal muscular atrophy (SMA) is an autosomal recessive progressive neurodegenerative primary motor neuron disorder caused by biallelic variants of the survival motor neuron 1 (SMN1) gene. The most recent SMA best practice recommendations were published in 2018 shortly after the approval of the first SMN-enhancing treatment. The availability of disease-modifying therapies for 5q SMA and implementation of SMA newborn screening (NBS) has led to urgency to update the SMA best practice recommendations for diagnosis and to reevaluate the current classification of SMA. In addition, the availability of disease-modifying therapies has opened the door to explore improved diagnosis of adult-onset SMA.

Methods: A systematic literature review was conducted on SMA NBS. An SMA working group of American and European health care providers developed recommendations through a modified Delphi technique with serial surveys and virtual meeting feedback on SMA diagnosis to fill information gaps for topics with limited evidence. A community working group of an individual with SMA and caregivers provided insight and perspective on SMA diagnosis and support through a virtual meeting to guide recommendations.

Results: The health care provider working group achieved consensus that SMA NBS is essential to include in the updated best practice for SMA diagnosis (100%). Recommendations for the following are described: characterizing NBS-identified infants before treatment; minimum recommendations for starting or offering SMA NBS in a state or country; recommendations for activities and services to be provided by an SMA specialty care center accepting SMA NBS referrals; and recommendations for partnership with individuals with SMA and caregivers to support NBS-identified infants and their caregivers. Limited data are available to advance efficient diagnosis of adult-onset SMA.

Discussion: Updating best practice recommendations for SMA diagnosis to include SMA NBS implementation is essential to advancing care for individuals with SMA. In addition to testing, processes for the efficient management of positive newborn screen with access to knowledgeable and skilled health care providers and access to treatment options is critical to successful early diagnosis. Additional evidence is required to improve adult-onset SMA diagnosis.

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Conflict of interest statement

M. Schroth is an employee of Cure SMA; J. Deans is an employee of Cure SMA; K. Arya reports no disclosures; D. Castro received research support from Biohaven, Genentech, and Biogen, served as a speaker for Novartis Gene Therapies, and served on the Cure SMA Board of Directors; D. De Vivo served on scientific advisory boards for Novartis Gene Therapies, Biogen, Ionis Pharmaceuticals, Inc., PTC Therapeutics, Roche, and the SMA Foundation, served as a consultant for Novartis Gene Therapies and Biogen, received research support from the SMA Foundation and Cure SMA, and received clinical trial funding from Biogen and Scholar Rock; M. Gibbons reports no disclosures; C. Ionita reports no disclosures; N.L. Kuntz served on a scientific advisory board for Genentech, and received institutional clinical trial research support from Biogen, Genentech, and Novartis Gene Therapies; A. Lakhotia received research support from Novartis Gene Therapies and Genentech and served on editorial board for Pediatric Neurology; E. Neil Knierbein reports no disclosures; M. Scoto served on scientific advisory boards and as a speaker for Roche, Novartis, and Biogen; T. Sejersen received research support from PTC Therapeutics and served as a consultant for Biogen, Novartis, PTC Therapeutics, and Roche and received ALF funding from Stockholm Regional Council and research funding to the Center for Neuromusculoskeletal Restorative Medicine from Health@InnoHK program launched by Innovation and Technology Commission, the Government of the Hong Kong Special Administrative Region of the People's Republic of China; L. Servais served as a consultant for Biogen, Roche, Novartis Gene Therapies, Biohaven, and Scholar Rock; C. Tian received clinical trial research support from Biohaven and Novartis Gene Therapies; M. Waldrop served on scientific advisory board for Novartis Gene Therapies and received clinical trial research support from Novartis Gene Therapies; J.F. Vázquez Costa served on scientific advisory boards and served as a speaker for Roche, Novartis, and Biogen and received research support from Roche. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.

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