scholarly journals HAVING A GO AT SPINAL MUSCULAR ATROPHY WITH SPINRAZA

2017 ◽  
Vol 10 (6) ◽  
pp. 16
Author(s):  
Balaji O ◽  
Amita D ◽  
Sereen Rt ◽  
Navin Ap
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Trials ◽  
Spinal Muscular Atrophy ◽  
Drug Administration ◽  
Muscular Atrophy ◽  
Food And Drug Administration ◽  
Neurological Condition ◽  
Disease Modifying Therapy ◽  
Different Types ◽  
Disease Modifying

Spinal muscular atrophy (SMA), a neurological condition which is genetically mediated is the second most common infantile disease causing morbidity and mortality next to cystic fibrosis. It is of five different types with each type having different severity outcomes. For almost three decades, only supportive measures were advocated in the treatment of SMA. Recently, Biogen’s Spinraza came out as the first disease modifying therapy to treat infantile as well as adult SMA. This review throws light on the pharmacological aspects of the drug; its approval by Food and Drug Administration and various completed clinical trials as well ongoing clinical trials.

Respiratory Issues in patients with Spinal Muscular Atrophy (SMA) type 1, Treated with Disease-Modifying Therapy

2021 ◽  
Author(s):  
Mirella Gaboli ◽  
Mercedes López-Lobato ◽  
Marcos Madruga-Garrido ◽  
Macarena Borrero-Rodriguez ◽  
Alejandro Palomo-Pavón ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Disease Modifying Therapy ◽  
Disease Modifying

scholarly journals Dysphagia Phenotypes in Spinal Muscular Atrophy: The Past, Present, and Promise for the Future

2021 ◽  
pp. 1-15
Author(s):  
Katlyn Elizabeth McGrattan ◽  
Robert J. Graham ◽  
Christine J. DiDonato ◽  
Basil T. Darras
Keyword(s):  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Review Literature ◽  
Future Research ◽  
Original Research ◽  
Disease Modifying Therapy ◽  
Search Terms ◽  
Disease Modifying Therapies ◽  
Disease Modifying ◽  
Alternative Nutrition

Purpose The aim of this study was to provide clinicians with an overview of literature relating to dysphagia in spinal muscular atrophy (SMA) to guide assessment and treatment. Method In this clinical focus article, we review literature published in Scopus and PubMed between 1990 and 2020 pertaining to dysphagia in SMA across the life span. Original research articles that were published in English were included. Searches were conducted within four themes of inquiry: (a) etiology and phenotypes, (b) respiratory systemic deficits and management, (c) characteristics of natural history dysphagia and its treatment, and (d) dysphagia outcomes with disease-modifying therapies. Articles for the first two themes were selected by content experts who identified the most salient articles that would provide clinicians foundational background knowledge about SMA. Articles for the third theme were identified using search terms, including spinal muscular atrophy, swallow, dysphagia, bulbar, nutrition, g-tube, alternative nutrition, jaw, mouth, palate, OR mandible . Search terms for the fourth theme included spinal muscular atrophy AND nusinersen OR AVXS-101/onasemnogene abeparvovec-xioi . Review of Pertinent Literature Twenty-nine articles were identified. Findings across identified articles support the fact that patients with SMA who do not receive disease-modifying therapy exhibit clinically significant deficits in oropharyngeal swallow function. Few investigations provided systematic information regarding the underlying physiological deficits responsible for this loss in function, the timing of the degradation, or how disease-modifying therapies change these outcomes. Conclusion Future research outlining the physiological and functional oropharyngeal swallowing deficits among patients with SMA who receive disease-modifying therapy is critical in developing standards of dysphagia care to guide clinicians.

Long‐term benefits of nusinersen in a child affected by cystic fibrosis and spinal muscular atrophy type 1

2021 ◽  
Author(s):  
Giorgia Bruno ◽  
Bernadette Donnarumma ◽  
Alessia Inverardi ◽  
Paolo Buonpensiero ◽  
Angela Sepe ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Spinal Muscular Atrophy Type

SMN mRNA and protein levels in peripheral blood

Neurology ◽  
2006 ◽  
Vol 66 (7) ◽  
pp. 1067-1073 ◽  
Author(s):  
C. J. Sumner ◽  
S. J. Kolb ◽  
G. G. Harmison ◽  
N. O. Jeffries ◽  
K. Schadt ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Spinal Muscular Atrophy ◽  
Disease Severity ◽  
Peripheral Blood ◽  
Muscular Atrophy ◽  
Gene Copy ◽  
Blood Levels ◽  
Type I ◽  
Protein Levels ◽  
Smn Protein

Background: Clinical trials of drugs that increase SMN protein levels in vitro are currently under way in patients with spinal muscular atrophy.Objective: To develop and validate measures of SMN mRNA and protein in peripheral blood and to establish baseline SMN levels in a cohort of controls, carriers, and patients of known genotype, which could be used to follow response to treatment.Methods: SMN1 and SMN2 gene copy numbers were determined in blood samples collected from 86 subjects. Quantitative reverse transcription PCR was used to measure blood levels of SMN mRNA with and without exon 7. A cell immunoassay was used to measure blood levels of SMN protein.Results: Blood levels of SMN mRNA and protein were measured with high reliability. There was little variation in SMN levels in individual subjects over a 5-week period. Levels of exon 7-containing SMN mRNA and SMN protein correlated with SMN1 and SMN2 gene copy number. With the exception of type I SMA, there was no correlation between SMN levels and disease severity.Conclusion: SMN mRNA and protein levels can be reliably measured in the peripheral blood and used during clinical trials in spinal muscular atrophy, but these levels do not necessarily predict disease severity.

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