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The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment

1
Centre of Research in Myology, Institute of Myology, Sorbonne Université, INSERM, 75013 Paris, France
2
Association Institut de Myologie, Plateforme Essais Cliniques Adultes, 75013 Paris, France
3
APHP, Service de Neuromyologie, Hôpital Pitié-Salpêtrière, 75013 Paris, France
*
Authors to whom correspondence should be addressed.
J. Pers. Med. 2020, 10(3), 75; https://doi.org/10.3390/jpm10030075
Received: 12 June 2020 / Revised: 22 July 2020 / Accepted: 24 July 2020 / Published: 29 July 2020
Spinal muscular atrophy (SMA) is currently classified into five different subtypes, from the most severe (type 0) to the mildest (type 4) depending on age at onset, best motor function achieved, and copy number of the SMN2 gene. The two recent approved treatments for SMA patients revolutionized their life quality and perspectives. However, upon treatment with Nusinersen, the most widely administered therapy up to date, a high degree of variability in therapeutic response was observed in adult SMA patients. These data, together with the lack of natural history information and the wide spectrum of disease phenotypes, suggest that further efforts are needed to develop precision medicine approaches for all SMA patients. Here, we compile the current methods for functional evaluation of adult SMA patients treated with Nusinersen. We also present an overview of the known molecular changes underpinning disease heterogeneity. We finally highlight the need for novel techniques, i.e., -omics approaches, to capture phenotypic differences and to understand the biological signature in order to revise the disease classification and device personalized treatments. View Full-Text
Keywords: spinal muscular atrophy; adult patients; disease heterogeneity; Nusinersen; disease modifiers; functional outcomes; biomarkers; epigenetic changes; -omics approaches spinal muscular atrophy; adult patients; disease heterogeneity; Nusinersen; disease modifiers; functional outcomes; biomarkers; epigenetic changes; -omics approaches
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MDPI and ACS Style

Smeriglio, P.; Langard, P.; Querin, G.; Biferi, M.G. The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment. J. Pers. Med. 2020, 10, 75. https://doi.org/10.3390/jpm10030075

AMA Style

Smeriglio P, Langard P, Querin G, Biferi MG. The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment. Journal of Personalized Medicine. 2020; 10(3):75. https://doi.org/10.3390/jpm10030075

Chicago/Turabian Style

Smeriglio, Piera, Paul Langard, Giorgia Querin, and Maria G. Biferi. 2020. "The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment" Journal of Personalized Medicine 10, no. 3: 75. https://doi.org/10.3390/jpm10030075

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