Novartis Provides Update on AVXS-101 Intrathecal Clinical Development Program - Seite 2

The company’s commitment to SMA extends beyond gene therapy to branaplam (LMI070), an oral, once-weekly RNA splicing modulator also currently under development, to expand the treatment options for SMA patients. 

About Zolgensma (onasemnogene abeparvovec)
Zolgensma is designed to address the genetic root cause of SMA by providing a functional copy of the human SMN gene to halt disease progression through sustained SMN protein expression with a single, one-time IV infusion. Zolgensma was approved by the US Food and Drug Administration in May 2019 and represents the first approved therapeutic in the company’s proprietary platform to treat rare, monogenic diseases using gene therapy. In addition to the US, Zolgensma is approved in Japan, Europe and Brazil. More than 600 patients have been treated with Zolgensma, including clinical trials, commercially and through the managed access program. Novartis Gene Therapies is pursuing registration in close to three dozen countries with regulatory decisions anticipated in Switzerland, Canada, Israel, Australia, and South Korea in late-2020 or early 2021.

About Spinal Muscular Atrophy
SMA is the leading genetic cause of infant death. If left untreated, SMA Type 1 leads to death or the need for permanent ventilation by the age of two in more than 90% of cases.
SMA is a rare, genetic neuromuscular disease caused by a lack of a functional SMN1 gene, resulting in the rapid and irreversible loss of motor neurons, affecting muscle functions, including breathing, swallowing and basic movement. It is imperative to diagnose SMA and begin treatment, including proactive supportive care, as early as possible to halt irreversible motor neuron loss and disease progression. This is especially critical in SMA Type 1, where motor neuron degeneration starts before birth and escalates quickly. Loss of motor neurons cannot be reversed, so SMA patients with symptoms at the time of treatment will likely require some supportive respiratory, nutritional and/or musculoskeletal care to maximize functional abilities. More than 30% of patients with SMA Type 2 will die by age 25.

About Novartis Gene Therapies
Novartis Gene Therapies (formerly AveXis) is reimagining medicine to transform the lives of people living with rare genetic diseases. Utilizing cutting-edge technology, we are turning promising gene therapies into proven treatments, beginning with our transformative gene therapy for spinal muscular atrophy (SMA). This therapy is now approved in the US, Japan, Europe and Brazil, and additional registrations are being pursued in close to three dozen countries, with regulatory decisions anticipated in Switzerland, Canada, Israel, Australia, Argentina and South Korea in late 2020 or early 2021. Our robust AAV-based pipeline is advancing treatments for Rett syndrome; a genetic form of amyotrophic lateral sclerosis (ALS) caused by mutations in the superoxide dismutase 1 (SOD1) gene; and Friedreich’s ataxia. We are powered by the world’s largest gene therapy manufacturing footprint of more than one million square feet, enabling us to bring these therapies to patients around the world at quality and scale.