Abstract
Nusinersen is the first oligonucleotide-based drug that is approved for the treatment of spinal muscular atrophy. In January 2020, the WHO declared COVID-19 a pandemic and nusinersen-provider centers had to postpone planned infusions for some children along with other related interventions. Considering the important contribution that the intrathecal infusions and other support activities could have on the quality of life of spinal muscular atrophy patients and their families, this emergency could have a relevant impact on the course of the pathology. The present work aims to assess the clinical and social issues that arise for spinal muscular atrophy children in care at the referral pediatric palliative care Centre of Padua (Veneto) from a delay in nusinersen infusions, resulting from the contingent COVID-19 restrictions. This evaluation has been carried out in both the short and long term after the first lockdown period and can be considered as a “proxy” of a situation of a possible delay in administration or management of infusions, due to other different causes.
Highlights
Spinal muscular atrophy (SMA) is a relatively rare neuromuscular disorder, which could lead to infant mortality [1]
In the referral PPC Centre of Padua (Veneto), during the first lockdown period and to a shared decision taken by all the national nusinersen-provider centers, the nusinersen loading doses were configured as a health emergency and respected, maintenance doses instead were moved in compliance with the restrictions, but not exceeding an interval of months [16]
The present work aimed to investigate the effects of the delay of nusinersen infusions due to the COVID-19 pandemic on children with SMA, in the context of global care at the a detailed statistical analysis was not possible due to the small sample size, no correlation between a delayed treatment and changes of functional scores emerged over the short-period evaluations (∼2 months after the end of the first lockdown) and the immediately following months
Summary
Spinal muscular atrophy (SMA) is a relatively rare neuromuscular disorder, which could lead to infant mortality [1]. It is caused by the loss or mutation of the “survival of motor neuron” gene, termed SMN1. Nusinersen is the first oligonucleotide-based drug that is approved for the treatment of SMA [4]; it has been available in the market in Italy since October 2017 [5, 6]. This molecule has shown to be effective in patients with SMA1 and SMA2 in pivotal trials (NCT02193074 and NCT02292537)
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