Perspectives on models of spinal muscular atrophy for drug discovery

2004 ◽  
Vol 1 (2) ◽  
pp. 151-156 ◽  
Author(s):  
Matthew E.R. Butchbach ◽  
Arthur H.M. Burghes
Keyword(s):  
Drug Discovery ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

Drug discovery and development for spinal muscular atrophy: lessons from screening approaches and future challenges for clinical development

2010 ◽  
Vol 2 (9) ◽  
pp. 1429-1440 ◽  
Author(s):  
Rebecca M Pruss ◽  
Marc Giraudon-Paoli ◽  
Svetlana Morozova ◽  
Patrick Berna ◽  
Jean-Louis Abitbol ◽  
...  
Keyword(s):  
Drug Discovery ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Clinical Development ◽  
Drug Discovery And Development ◽  
Future Challenges ◽  
Screening Approaches

Drug discovery for spinal muscular atrophy

2007 ◽  
Vol 2 (4) ◽  
pp. 437-451 ◽  
Author(s):  
Brunhilde Wirth PhD ◽  
Markus Riessland Msc ◽  
Eric Hahnen MBA
Keyword(s):  
Drug Discovery ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

scholarly journals Drug Discovery of Spinal Muscular Atrophy (SMA) in Computational Perspective: A Comprehensive Review

2021 ◽  
Vol 22 (16) ◽  
pp. 8962
Author(s):  
Li Chuin Chong ◽  
Gayatri Gandhi ◽  
Jian Ming Lee ◽  
Wendy Wai Yeng Yeo ◽  
Sy-Bing Choi
Keyword(s):  
Drug Discovery ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Drug Repurposing ◽  
Survival Motor Neuron ◽  
Biomedical Data ◽  
Loss Of Function ◽  
Therapeutic Development ◽  
Smn Protein ◽  
Approved Drugs

Spinal muscular atrophy (SMA), one of the leading inherited causes of child mortality, is a rare neuromuscular disease arising from loss-of-function mutations of the survival motor neuron 1 (SMN1) gene, which encodes the SMN protein. When lacking the SMN protein in neurons, patients suffer from muscle weakness and atrophy, and in the severe cases, respiratory failure and death. Several therapeutic approaches show promise with human testing and three medications have been approved by the U.S. Food and Drug Administration (FDA) to date. Despite the shown promise of these approved therapies, there are some crucial limitations, one of the most important being the cost. The FDA-approved drugs are high-priced and are shortlisted among the most expensive treatments in the world. The price is still far beyond affordable and may serve as a burden for patients. The blooming of the biomedical data and advancement of computational approaches have opened new possibilities for SMA therapeutic development. This article highlights the present status of computationally aided approaches, including in silico drug repurposing, network driven drug discovery as well as artificial intelligence (AI)-assisted drug discovery, and discusses the future prospects.

Hydrocephalus in Spinal Muscular Atrophy: A Case Report and Review of the Literature

2020 ◽  
Author(s):  
Jeetendra P. Sah ◽  
Aaron W. Abrams ◽  
Geetha Chari ◽  
Craig Linden ◽  
Yaacov Anziska
Keyword(s):  
Spinal Muscular Atrophy ◽  
Clinical Characteristics ◽  
Clinical Presentation ◽  
Muscular Atrophy ◽  
Communicating Hydrocephalus ◽  
Type I ◽  
Review Of The Literature ◽  
Radiographic Findings ◽  
Comprehensive Review ◽  
The Relationship

AbstractIn this article, we reported a case of spinal muscular atrophy (SMA) type I noted to have tetraventricular hydrocephalus with Blake's pouch cyst at 8 months of age following intrathecal nusinersen therapy. The association of hydrocephalus with SMA is rarely reported in the literature. Development of hydrocephalus after intrathecal nusinersen therapy is also reported in some cases, but a cause–effect relationship is not yet established. The aim of this study was to describe the clinical characteristics of a patient with SMA type I and hydrocephalus, to review similar cases reported in the literature, and to explore the relationship between nusinersen therapy and development of hydrocephalus. The clinical presentation and radiographic findings of the patient are described and a comprehensive review of the literature was conducted. The adverse effect of communicating hydrocephalus related to nusinersen therapy is being reported and the authors suggest carefully monitoring for features of hydrocephalus developing during the course of nusinersen therapy.

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