Open Access

Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School

  • Authors:
    • Ioannis N. Mammas
    • Demetrios A. Spandidos
  • View Affiliations

  • Published online on: February 22, 2018     https://doi.org/10.3892/etm.2018.5884
  • Pages: 3673-3679
  • Copyright: © Mammas et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

According to Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School and Director of the Spinal Muscular Atrophy (SMA) Program at Boston Children's Hospital in Boston (MA, USA), the diagnosis of SMA type I is clinical and is based on detailed general physical and neurological examinations. SMA type I remains the most common genetic disease resulting in death in infancy and is really devastating for the child, the parents, as well as the medical professionals with the privilege of caring for patients with SMA and their parents. The proposed management options include: i) no respiratory support; ii) non‑invasive ventilation; and iii) tracheotomy with mechanical ventilation. Deciding, which option is the best, is indeed a very personal decision. The optimal clinical care should be extremely mindful of parents' wishes and management goals with regard to the quality of life. Since the end of 2016 in the USA, and recently in Europe, there exists the possibility of accessing a novel treatment drug for SMA, namely Nusinersen. This antisense oligonucleotide is administered intrathecally and increases the production of the fully functional SMN protein, thus improving motor function, the quality of life and survival. Among the ongoing clinical trials, oral treatment with RG7916, a small molecule SMN2 splicing modifier, appears to be really promising. Gene therapy using viral vectors is expected to offer an ‘one and done’ therapy and possibly a cure, if administered early in life, before any symptoms appear. It is really interesting that viruses, which at the moment are the cause of death of children with SMA, if genetically modified, may be used for their treatment.
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April-2018
Volume 15 Issue 4

Print ISSN: 1792-0981
Online ISSN:1792-1015

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Spandidos Publications style
Mammas IN and Mammas IN: Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School. Exp Ther Med 15: 3673-3679, 2018
APA
Mammas, I.N., & Mammas, I.N. (2018). Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School. Experimental and Therapeutic Medicine, 15, 3673-3679. https://doi.org/10.3892/etm.2018.5884
MLA
Mammas, I. N., Spandidos, D. A."Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School". Experimental and Therapeutic Medicine 15.4 (2018): 3673-3679.
Chicago
Mammas, I. N., Spandidos, D. A."Spinal muscular atrophy type I and the dual role of viruses: An interview with Professor Basil T. Darras, Professor of Neurology (Pediatrics) at Harvard Medical School". Experimental and Therapeutic Medicine 15, no. 4 (2018): 3673-3679. https://doi.org/10.3892/etm.2018.5884