• AVXS-101, has potential to be first-ever one-time gene replacement therapy for spinal muscular atrophy (SMA), a disease which results in early death or lifelong disability with considerable healthcare costs
• AVXS-101 has Breakthrough therapy designation in the US, PRIME designation in the EU and Sakigake in Japan; expected US patient availability in 2019
• Novartis and AveXis entered into an Agreement in April, 2018 for Novartis to acquire AveXis for $8.7 billion. Deal expected to close in mid 2018
• AveXis offers a valuable gene therapy platform, with potential beyond SMA, and scalable manufacturing to accelerate potential future gene therapy programs and launches

AveXis, Inc.  (AveXis entered into an agreement with Novartis to be acquired for $8.7 bn in April, 2018) , announced on 4/25/18 that the first patient has been dosed in a Phase 3 trial evaluating AVXS-101 in pre-symptomatic patients with spinal muscular atrophy (SMA) Types 1, 2 and 3 (SPRINT).

“Treating SMA as early as possible is critically important in order to rescue motor neurons before they are permanently lost. SPRINT enables us to understand how intervening in pre-symptomatic infants with AVXS-101 may impact clinical outcomes, including milestone development such as functional sitting, standing without support and walking,” said Dr. Sukumar Nagendran, Chief Medical Officer of AveXis. “In addition to our ongoing studies in SMA Types 1 and 2, SPRINT adds to our evaluation of AVXS-101 in multiple SMA sub-types, including Type 3. We are excited by the progress made across our clinical development program as we continue toward the goal of making AVXS-101 available to the SMA community.”

AVXS-101, is a proprietary gene therapy currently in development for the one-time treatment of SMA Types 1, 2 and 3, and is designed to address the monogenic root cause of SMA and prevent further muscle degeneration by addressing the defective and/or loss of the primary SMN gene. AVXS-101 also targets motor neurons, providing rapid onset of effect and crossing the blood brain barrier to allow effective targeting of both central and systemic features.

SMA is a severe neuromuscular disease characterized by the loss of motor neurons leading to progressive muscle weakness and paralysis. SMA is caused by a genetic defect in the SMN1 gene that codes SMN, a protein necessary for survival of motor neurons. The incidence of SMA is approximately one in 10,000 live births and is the leading genetic cause of infant mortality.

The most severe form of SMA is Type 1, a lethal genetic disorder characterized by motor neuron loss and associated muscle deterioration, which results in mortality or the need for permanent ventilation support before the age of two for greater than 90 percent of patients. SMA Type 2 typically presents between six and 18 months of age, and those affected will never walk without support and most will never stand without support. SMA Type 2 results in mortality in more than 30 percent of patients by the age of 25. SMA Type 3 typically presents in early childhood to early adulthood, and those affected may lose the ability to walk over time. The incidence per live births among subtypes is approximately 60, 27 and 13 percent for SMA Type 1, Type 2 and Type 3, respectively.