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Review
. 2024 Dec 1;36(6):612-618.
doi: 10.1097/MOP.0000000000001403. Epub 2024 Sep 13.

Treatment of spinal muscular atrophy

Maria Carmela Pera  1   2 , Eugenio Mercuri  1   2
Affiliations
Review

Treatment of spinal muscular atrophy

Maria Carmela Pera et al. Curr Opin Pediatr. .

Abstract

Purpose of review: The aim of the review was to provide an overview of safety and efficacy of the available treatments including information from both clinical trials and real-world data. Additional information form ongoing studies using other approaches than increasing SMN protein are also reported.

Recent findings: In the last 3 years, there have been over 24 studies reporting safety and the impact of the available drugs on different aspects of function, including respiratory and bulbar function. These findings, obtained in a real-world setting, are extremely important to define the spectrum of responses in individuals with different age, weight, SMN2 copies, and other variables and will be of help to the families and the clinicians to set up the right expectations at the time of starting a new treatment.

Summary: The large number of studies that became available in the last few years support and expand the information on safety and efficacy provided by the clinical trials.

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References

    1. Mercuri E, Sumner CJ, Muntoni F, et al. Spinal muscular atrophy. Nat Rev Dis Primers 2022; 8:52.
    1. Coratti G, Ricci M, Capasso A, et al. ITASMAC working group. Prevalence of spinal muscular atrophy in the era of disease-modifying therapies: an Italian nationwide survey. Neurology 2023; 100:522–528.
    1. Finkel RS, Mercuri E, Meyer OH, et al. SMA Care group. Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord 2018; 28:197–207.
    1. Mercuri E, Finkel RS, Muntoni F, et al. SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 2017; 28:103–115.
    1. Mercuri E, Pera MC, Scoto M, et al. Spinal muscular atrophy - insights and challenges in the treatment era. Nat Rev Neurol 2020; 16:706–715.