Experimental Gene Therapy for Type 1 Spinal Muscular Atrophy Gets Priority Review

According to a story from BioPortfolio, the drug developer Novartis recently announced that the US Food and Drug Administration (FDA) has granted the company’s investigational gene therapy AVXS-101, also known as Zolgensma®, Priority Review. The agency has also accepted the company’s Biologics License Application (BLA) for the drug, which is intended to treat spinal muscular atrophy type 1.

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. Type 1 spinal muscular atrophy generally appears in the first few months of life. 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.

A Possible Breakthrough

Babies born with spinal muscular atrophy generally do not survive beyond their second year of life. Zolgensma has the potential to offer a significant improvement in treatment for patients with this severe form of the disease. Designed as a single administration gene therapy, the data for the drug has been impressive so far. All of the 15 patients which participated in a trial of the drug were still alive and did not need permanent breathing assistance at 24 months in age. 

About Zolgensma

Zolgensma works by replacing the deficient or absent SMN1 gene with a functional copy, therefore addressing the root genetic cause of spinal muscular atrophy. This process should theoretically halt any further progression of the disease. The development of this drug should be watched closely by the spinal muscular atrophy disease community. 

It is expected that a decision regarding the drug’s status should be made in May 2019. Priority Review means that the FDA will issue a reply to an application for approval within six months instead of the normal ten months.


Share this post

We believe rare disease patients are people, not a diagnosis. Through education, awareness and some humor, we help patients, caregivers and support persons by providing relevant and often inspirational news and stories.
Our goals are to share stories, cultivate strong community, provide the latest medical findings, connect people and pioneer production of patient worthy information. Help us attain these goals by telling us a little bit about yourself!

© Copyright Patient Worthy

Close Menu