Latest Data Reinforces Effectiveness of a Potential Gene Therapy for Type 1 Spinal Muscular Atrophy

According to a story from, the Novartis company AveXis has released interim data from an ongoing Phase 3 clinical trial of Zolgensma, a gene therapy drug that is being developed as a treatment for spinal muscular atrophy type 1. The results from the study have been positive so far and reinforce earlier clinical data that suggests that this single use gene therapy could dramatically improve the lives of patients with this rare disorder.

About Spinal Muscular Atrophy

Spinal muscular atrophy is a type of neuromuscular disorder in which the motor neurons are destroyed, leading to muscle wasting. In many cases, the disease is lethal. 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. Spinal muscular atrophy type 1 is the most severe type which causes symptoms in the early months of life and can be lethal in as little as few weeks. 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. There are a variety of management strategies for spinal muscular atrophy, but it is still usually fatal in its most severe forms. To learn more about spinal muscular atrophy, click here.

Interim Findings

The findings suggest that Zolgensma can provide long term event free survival for patients and the achievement of developmental milestones that spinal muscular atrophy type 1 would typically prevent. 95 percent of spinal muscular atrophy patients that took Zolgensma in the trial were still alive at ages that would have normally resulted in deaths for around half of them. Other measures being observed in the study are the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND) score. Patients that are responding to the treatment have seen their scores increase over time, indicating improved function.

The findings so far for this gene therapy drug have been largely positive and indicate that this drug could represent a significant breakthrough for treating spinal muscular atrophy type 1.

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