المؤلفون: Piera Smeriglio, Paul Langard, Giorgia Querin, Maria Grazia Biferi

المصدر: Journal of Personalized Medicine, Vol 10, Iss 3, p 75 (2020)

مصطلحات موضوعية: spinal muscular atrophy, adult patients, disease heterogeneity, Nusinersen, disease modifiers, functional outcomes, Medicine

الوصف: 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.

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2075-4426/10/3/75Test; https://doaj.org/toc/2075-4426Test

الوصول الحر: https://doaj.org/article/c8a989ed9b354fbc9f6ca507946bd8bfTest

المؤلفون: Paul Langard, Maria Grazia Biferi, Giorgia Querin, Piera Smeriglio

المساهمون: Institut de Myologie, Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Sorbonne Université (SU), Centre de Recherche en Myologie, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Gestionnaire, Hal Sorbonne Université, Centre de recherche en Myologie – U974 SU-INSERM, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)

المصدر: Journal of Personalized Medicine
Journal of Personalized Medicine, MDPI, 2020, 10 (3), pp.75. ⟨10.3390/jpm10030075⟩
Journal of Personalized Medicine, 2020, 10 (3), pp.75. ⟨10.3390/jpm10030075⟩
Journal of Personalized Medicine, Vol 10, Iss 75, p 75 (2020)

مصطلحات موضوعية: lcsh:Medicine, Medicine (miscellaneous), adult patients, Disease, Review, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, disease modifiers, Nusinersen, medicine, 030304 developmental biology, spinal muscular atrophy, 0303 health sciences, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, omics approaches, lcsh:R, epigenetic changes, biomarkers, Spinal muscular atrophy, Omics, medicine.disease, Precision medicine, SMA, disease heterogeneity, 3. Good health, Natural history, functional outcomes, Identification (biology), business, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

الوصف: International audience; 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.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fe4a0a4ddace8260c28c6b82aa916dcTest
http://europepmc.org/articles/PMC7564782Test