Gene Therapy

AveXis Therapeutics (now part of Novartis) is developing a virus based gene therapy for the treatment of spinal muscular atrophy types I and II. In contrast to competitors, this therapy is administered systemically and only requires a single lifetime dose.


Non-replicating adeno-associated virus-Spinal muscular atrophy is caused by a loss of function in neurons of the spinal cord. This happens because of mutations in the SMA1 gene, one of two genes encoding the SMA protein. This protein is necessary for motor neuron survival. There is also an SMN2 gene, but this gene only produces 10% functional protein. The AveXis approach is to use a modified adeno-associated virus to deliver a functional copy of the SMA gene to motor neurons. The virus is modified so it no longer replicates and so that it contains the SMA gene instead of the usual viral genome. When the virus crosses the blood brain barrier and is endocytosed by neurons, the SMA transgene can enter nuclei of cells. Various genetic modifications to the transgene boost the efficacy of this therapeutic and decreases the amount of time required for motor neurons to start producing functional SMA protein. This gene therapy is designed to be administered systemically in a single lifetime dose. There is an FDA approved antisense RNA for the treatment of spinal muscular atrophy (Sprinrasa). However, this therapeutic is only administered to the CNS, but spinal muscular atrophy has been shown to have systemic effects. Moreover, Sprinrasa requires multiple doses overtime and has variable efficacy depending on individual SMA2 expression levels.

How spinal muscular atrophy adeno-associated virus gene therapy works


Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
Mendell, JR; et al. New England Journal of Medicine. 2017 Nov 2; 377(18): 1713-1722.

Funding Breakthrough Therapies: A Systematic Review and Recommendation
Hanna, E; Toumi, M; Dussart, C; Borissov, B; Dabbous, O; Badora, K; Auqier, P. Health Policy. 2018 Mar; 122(3): 217-229.

Safety, tolerability, and preliminary efficacy of an IGF-1 Mimetic in Patients with Spinal and Bulbar Muscular Atrophy: A Randomised, Placebo-Controlled Trial
Grunseich, C; et al. Lancet Neurology. 2018 Dec; 17(12): 1043-1052.

High Healthcare Resource Use in Hospitalized Patients with a Diagnosis of Spinal Muscular Atrophy Type 1 (SMA1): Retrospective Analysis of the Kids’ Inpatient Database (KID)
Cardenas, J; Menier, M; Keitzer, MD; Sproule, DM. PharmacoEconomics. 2018 Sep 4.


AveXis is not assigned any patents for the technologies it commercializes. It relies exclusively on licencing.

Intrathecal Administration of Recombinant Adeno-Associated Virus 9
(Nationwide Children’s Hospital, The Ohio State Innovation Foundation)

CNS Gene Delivery Using Peripheral Administration of AAV Vectors

Widespread Gene Delivery to Motor Neurons Using Peripheral Injection of AAV Vectors

Development Stage


Clinical: Spinal Muscular Atrophy Type 1 (Phase III)  and Type 2 (Phase I)

Preclinical: Rett syndrome, ALS caused by mutation in the SOD1 gene

Innovation Opportunity

  • Targeted drug delivery
  • Adenovirus based gene therapy
  • Orphan diseases


AveXis specifically focuses on the following diseases:

  • ALS (SOD1 mutation)
  • Rett syndrome
  • Spinal muscular atrophy (type 1 and 2)

AveXis may be interested in industry or academic collaborations to expand its gene therapy delivery tool to further disease areas.  

AveXis is a fully owned subsidiary of Novartis. See Novartis Collaborations.

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