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FDA approves new gene therapy for Spinal Muscular Atrophy

FDA approves new gene therapy for Spinal Muscular Atrophy
Posted at 3:57 PM, May 30, 2019
and last updated 2019-05-30 20:17:54-04

NAMPA — Skyers Ruplinger has interests you'd expect of any 15-year-old.

"I manage my own YouTube channel, and I try and make content the fastest I can," said Skyers.

He navigates life a little differently because of Spinal Muscular Atrophy.

"There are 3 types so, [Type] III is where its degenerating in a later age, Type II is you're never able to walk, and type I is you're a baby, and you have a very high chance of dying," said Skyers.

Skyers was diagnosed with Type II Spinal Muscular Atrophy at age three; he takes quarterly treatments to manage it and stop further nerve damage.

"They have around a needle that has to be around 9 inches long, and they go from the side and inject it from the side, because I have a spinal rod in my back, so they have to go from the side around my kidney and get into the spinal chord and release the medicine," said Skyers.

The FDA recently approved of a new treatment for all types of spinal muscular atrophy before age 2. Type I SMA usually leads to an infant's death before age 2. The new gene therapy blocks symptoms before they develop and basically fixes the gene problem before it begins.

"It's supposed to stop any more muscle death, I mean that's lifesaving, I mean this is huge," said Skyers' mother Ladette Ruplinger.

Spinal muscular atrophy brings its own set of hurdles, physically, and it doesn't make other aspects of life for a teenager easier.

"I feel like they look at me as if I'm a monster roaming around the halls because they all kind of avoid me because of how big I am," said Ruplinger.

Skyers has found his release from the disorder in an online world. He has over 2,000 subscribers on youTube, who don't see him for his disability but for his gaming skill.

"Its kind of like a life simulator but you create it, and I like creating it because there are no diseases in that game," said Skyers.

The new FDA approved treatment could help children with SMA have a more mobile lifestyle- one not limited to an online world. The new therapy comes with a steep the price tag, however, of nearly 2 million dollars for the treatment.

Ladette pays nearly $350,000 dollars a year for her son's quarterly medication.

"I know as a parent cost is hard to hear, if you're out there listening, that that's how much it costs, but you just want to know your son is going to survive this, so I'm just excited they have it," said Ladette.

AveXis, a Novartis company which manufactures the drug, released this statement about the costs:
"The annualized cost of Zolgensma is $425,000 per year for five years. The Wholesale Acquisition Cost (WAC) of Zolgensma is $2.125 million. Zolgensma is priced lower than the current cost of clinical care and, over time, is expected to save costs in the healthcare system for the treatment and care of patients with SMA. We are working closely with payers to offer pay-over-time options up to 5 years and outcomes-based agreements up to 5 years, as well as providing a patient program to support affordability and access."

AveXis also says they plan to launch Zolgensma immediately, and the product will be available to ship within a couple of weeks.

For more information on the gene therapy, click here.

For more information on Spinal Muscular Atrophy, click here.