December 31, 2021
Sleep Quality and Spinal Muscular Atrophy Type 2
Patients with spinal muscular atrophy (SMA) type 2 typically begin exhibiting symptoms between 6 and 18 months old. This study, published in Sleep Medicine, analyzed both sleep architecture and the presence of sleep-disordered breathing in patients with SMA type 2. The study included data from 18 patients with SMA type 2 and 18 control patients. All...
Onasemnogene Abeparvovec Found Safe Over Six-Year Period
Onasemnogene abeparvovec is a gene replacement therapy used to treat type 1 spinal muscular atrophy (SMA). This type of SMA is characterized by onset before 6 months of age. This study, published in JAMA Neurology, studied the use of onasemnogene abeparvovec over 6.2 years following therapeutic administration. The study had two principal objectives: determine the...
The Costs of Spinal Muscular Atrophy Treatment
Spinal muscular atrophy (SMA) is divided into five types based on the age of onset and highest motor milestone achieved. To ease the burden of the disease, patients require a complex combination of multidisciplinary care. As a result, care can often be costly. This study, published in PharmacoEconomics, provides a literature review of the costs of...
Risdiplam Found to Improve Type I SMA
Type 1 SMA is a progressive neuromuscular disease characterized by onset at 6 months of age or younger. Risdiplam is a medication used to treat spinal muscular atrophy (SMA). It works by modifying SMN2 pre-messenger RNA splicing while increasing levels of functional SMN protein in the blood. This study, published in the New England Journal of...
Impact of Delayed Treatment on Kids With SMA During COVID-19
With the COVID-19 pandemic causing nusinersen treatments to be postponed, a study published in Frontiers in Neurology sought to understand the impact of delayed infusions and other supporting interventions for patients with spinal muscular atrophy (SMA) during the initial lockdown period in Italy in 2020. Researchers from the pediatric palliative care Centre of Padua (Veneto) evaluated...