Tag: spinal muscular atrophy

Categories : Diseases, Syndromes and ConditionsTags :

2-Drug Combo Boosts Spinal Muscular Atrophy Treatment

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Source: NCI on Unsplash

In 2016, Spinraza® became the by the first FDA-approved treatment for spinal muscular atrophy (SMA). This neurodegenerative disease is the leading genetic cause of infant death. The drug was conceived and developed by Cold Spring Harbor Laboratory (CSHL) Professor Adrian Krainer and collaborators. But Prof Krainer’s lab continued to try and improve Spinraza® could be improved, in collaboration with Alberto Kornblihtt at Universidad de Buenos Aires. They discovered pairing Spinraza® with a second FDA-approved drug called valproic acid (VPA) could be a new way to boost its therapeutic effects, without increasing toxic side effects.

Prof Krainer explained: “Sometimes you don’t want to use a ton of a drug. If you have a condition that allows you to use less drug, then you may have fewer toxicities. So the idea is to combine these two drugs to get maximal effects.”

In SMA, the body produces insufficient amounts of a protein called SMN. Spinraza® is a type of molecule called an antisense oligonucleotide (ASO) that helps cells make more SMN protein from a gene called SMN2. Roadblocks were discovered on the SMN2 gene when using Spinraza®, slowing down the cellular machine producing SMN protein. The drug VPA helps remove these roadblocks, allowing Spinraza® to further increase the SMN protein output. When mice with SMA were treated with both VPA and a Spinraza®-like ASO used for research, the mice survived longer, with improved muscle function.

To date, more than 11 000 SMA patients have been treated with Spinraza® in more than 50 countries. Prof Krainer’s latest research shows that there’s always room for improvement. He hopes the team’s findings will help optimize the efficacy of Spinraza® treatments, and hopes their work will help the development of treatments for other neurodegenerative diseases.

Source: Cold Spring Harbor Laboratory

Categories : Diseases, Syndromes and Conditions PaediatricsTags :

Early Intervention in Spinal Muscular Atrophy is Key

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According to the results of a new study published in Developmental Medicine & Child Neurology, early identification and treatment of patients with spinal muscular atrophy (SMA) can greatly reduce the total financial costs associated with the condition. 

A genetic disorder, SMA is characterised by progressive muscle weakness, reduced tone with associated destruction of alpha motor units. There are four main subtypes of spinal muscular atrophy defined by the age of onset and severity with type 0 presenting in utero and causing death within the first months of life and type 4 in adulthood, causing mild weakness and no effect on lifespan. Understanding the underlying pathophysiology, subtypes, and emerging treatments is key to treating patients with spinal muscular atrophy effectively.

Analysing the data of 149 SMA patients, (93 untreated, 42 treated after symptoms arose, and 14 treated after early diagnosis), the total societal cost was lower in untreated patients (due to high drug costs in treated patients), but costs were lower for treated patients who were identified by newborn screening than for treated patients identified due to the development of symptoms. 

“These data are important as they are issued from a real-life prospective collection. They demonstrate clearly that as long as the decision to reimburse treatments for SMA has been made, newborn screening becomes a no-brainer—not only because it gives patients a much better future, but also because it saves a significant amount of money for the taxpayer,” said senior author Laurent Servais, PhD, of the University of Liege, in Belgium and the University of Oxford, in the UK. “Using these data issued from the real world, we are working currently on a model that estimates the lifetime cost of the different strategies.” 

Source: Wiley