Long Term Data Looks Good for Spinal Muscular Atrophy Gene Therapy Zolgensma

According to a story from Benzinga, the Novartis Company AveXis recently announced the results of long term studies testing the impact of Zolgensma, a gene therapy treatment that was approved last year as a treatment for spinal muscular atrophy and currently holds the title of most expensive drug on the market. The research has found that treatment with the therapy has maintained sustained benefit in patients for up to five years or longer, including in patients that were treated before symptoms appeared.

About Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. Without prompt treatment, the disease is lethal in many cases. This disorder is linked to genetic defects of the SMN1 gene. This gene encodes a protein called SMN, and when not present in certain amounts, neurons are unable to function. There are different kinds of spinal muscular atrophy that are categorized by when symptoms first appear. These symptoms may include loss of reflexes, muscle weakness and poor muscle tone, problems with feeding and swallowing, developmental delays, respiratory muscle weakness, tongue twitching, and a bell shaped torso. The most effective treatment currently available for the disease is called Zolgensma. To learn more about spinal muscular atrophy, click here.

Study Findings

Interim data indicates that most patients (7 of 8) that were treated presymptomatically continued to achieve mobility milestones within the normal timespan as defined by the World Health Organization. There are still 6 patients in the study that have not reached this timespan yet. The vast majority were also able to feed themselves and were in the normal weight range for their age.

In a study of patients with the most common type 1 variant, 91 percent met with primary endpoint of event-free survival at 14 months and 59 percent met the primary endpoint of sitting unaided for 30 seconds or more at 18 months old. In addition, 9 of 22 patients demonstrated “ability to thrive,” which encompasses weight gain and feeding/swallowing ability.

These findings continue to support the effectiveness of this gene therapy as a treatment that has the potential to have pronounced, long-term benefits for spinal muscular atrophy patients that would never be seen in the natural course of the disease.


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