Spinal Muscular Atrophy Clinical Trials

2017 ◽  
pp. 423-428
Author(s):  
S.T. Iannaccone ◽  
L.L. Nelson
Keyword(s):  
Clinical Trials ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

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.

scholarly journals An Integrated Safety Analysis of Infants and Children with Symptomatic Spinal Muscular Atrophy (SMA) Treated with Nusinersen in Seven Clinical Trials

CNS Drugs ◽  
2019 ◽  
Vol 33 (9) ◽  
pp. 919-932 ◽  
Author(s):  
Basil T. Darras ◽  
Michelle A. Farrar ◽  
Eugenio Mercuri ◽  
Richard S. Finkel ◽  
Richard Foster ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Safety Analysis ◽  
Infants And Children

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.

scholarly journals Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials

2013 ◽  
Vol 77 (5) ◽  
pp. 435-463 ◽  
Author(s):  
Dian K. Nurputra ◽  
Poh San Lai ◽  
Nur Imma F. Harahap ◽  
Satoru Morikawa ◽  
Tomoto Yamamoto ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Gene Discovery

scholarly journals Spinal muscular atrophy type 1: current status of the issue

2020 ◽  
Vol 23 (2) ◽  
pp. 4-7
Author(s):  
Valeriya A. Bondar ◽  
Ilya V. Borisov ◽  
Mikhail M. Kanarskii ◽  
Julia Y. Nekrasova
Keyword(s):  
Clinical Trials ◽  
Spinal Muscular Atrophy ◽  
Age Of Onset ◽  
Muscular Atrophy ◽  
State Level ◽  
Current Status ◽  
Spinal Muscular Atrophy Type ◽  
Severity Of The Disease ◽  
Effective Drugs

The development of medical technologies has led to an increase in the survival of patients with spinal muscular atrophy (SMA). In turn, these drugs have a high cost, which limits their availability for children with SMA. This fact posed new challenges for the science community. Currently, clinical trials of the effectiveness of drugs for the treatment of various types of spinal muscular atrophy are underway. Clinical forms of SMA are grouped into 5 subtypes depending on the severity of the disease and the age of onset of the disease. Type 1 spinal muscular atrophy, or Werdnig-Hoffmann disease, is the most common, accounting for 60% of all cases of the disease. The first positive results of clinical trials of two potentially new and effective drugs Zolgensma and Risdiplam were published recently. Despite this, the inaccessibility of treatment of spinal muscular atrophy creates a serious interdisciplinary problem at the state level, including medical and social rehabilitation, which is important to understand when planning medical care.

Clinical trials in spinal muscular atrophy

2007 ◽  
Vol 19 (6) ◽  
pp. 675-679 ◽  
Author(s):  
Basil T Darras ◽  
Peter B Kang
Keyword(s):  
Clinical Trials ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy

scholarly journals Evidence in focus: Nusinersen use in spinal muscular atrophy

Neurology ◽  
2018 ◽  
Vol 91 (20) ◽  
pp. 923-933 ◽  
Author(s):  
David Michelson ◽  
Emma Ciafaloni ◽  
Stephen Ashwal ◽  
Elliot Lewis ◽  
Pushpa Narayanaswami ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Spinal Muscular Atrophy ◽  
Muscular Atrophy ◽  
Safety Information ◽  
Class I ◽  
Clinical Context ◽  
Sham Control ◽  
Level Of Evidence ◽  
Historical Cohort ◽  
Free Survival

ObjectiveTo identify the level of evidence for use of nusinersen to treat spinal muscular atrophy (SMA) and review clinical considerations regarding use.MethodsThe author panel systematically reviewed nusinersen clinical trials for patients with SMA and assigned level of evidence statements based on the American Academy of Neurology's 2017 therapeutic classification of evidence scheme. Safety information, regulatory decisions, and clinical context were also reviewed.ResultsFour published clinical trials were identified, 3 of which were rated above Class IV. There is Class III evidence that in infants with homozygous deletions or mutations of SMN1, nusinersen improves the probability of permanent ventilation-free survival at 24 months vs a well-defined historical cohort. There is Class I evidence that in term infants with SMA and 2 copies of SMN2, treatment with nusinersen started in individuals younger than 7 months results in a better motor milestone response and higher rates of event-free survival than sham control. There is Class I evidence that in children aged 2–12 years with SMA symptom onset after 6 months of age, nusinersen results in greater improvement in motor function at 15 months than sham control. Nusinersen was safe and well-tolerated.Clinical contextEvidence of efficacy is currently highest for treatment of infantile- and childhood-onset SMA in the early and middle symptomatic phases. While approved indications for nusinersen use in North America and Europe are broad, payer coverage for populations outside those in clinical trials remain variable. Evidence, availability, cost, and patient preferences all influence decision-making regarding nusinersen use.

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