AveXis’ Gene Therapy for Spinal Muscular Atrophy Submitted to the FDA for Approval

AveXis, a subsidiary of Novartis Therapeutics, is awaiting FDA approval for AVXS-101, the first-ever gene therapy to treat infants with type 1 spinal muscular atrophy (SMA) — the most fatal form of SMA. It is usually present either at birth or by 6 months of age. Babies born with type 1 typically have muscle weakness and experience difficulty breathing, swallowing and sitting upright unassisted. Without treatment, many do not survive past 2 years of age.

Almost two years ago, Spinraza became the first FDA approved therapy to treat SMA. It was intended for all individuals with SMA, regardless of disease type or age. Those receiving the therapy showed improved motor function and survival time.

There are high hopes for AVX-101, a one-time dose gene therapy for SMA. “What was remarkable and what we consider transformative — and frankly all the experts in the SMA field also feel the same — is that we had 100 percent survival of the children at 13.6 months of age, and 100 percent survival of the children at 20 months of age,” Sukumar Nagendran, former chief medical officer at AveXis commented in February.

The president of Cure SMA, a prominent patient advocacy group helping to fuel research and treatments, said the new gene therapy could be “transformative” for patients and families.

Many in the SMA community are eager to see the gene therapy approved. Kelly Mantoan, a parent to two children with SMA told The Mighty:

The SMA community is ecstatic about the pending approval and results associated with AveXis. Even those of us whose children may not directly benefit, or who may experience less dramatic results, celebrate the hope this treatment gives newly diagnosed SMA families. Over the last couple years, SMA has gone from being the number one genetic killer of children under two, to a disease with a reliable treatment (Spinraza), and now, what very well could be, a cure.

Denisa Mulalic-Dedic, mother to a child born with SMA type 1 and who turns 3 months old tomorrow, expressed to The Mighty:

I feel excited for this gene therapy and hope that all kids including Daijla will have the opportunity to receive it and live a normal, healthy life.

Over the next two months, the FDA will decide whether to accept AveXis’ application. If approved, the review process could take up to six months.