JAN 16, 2019 10:10 AM PST

Gene Therapy for a Leading Cause of Infant Death is Closer to Market

WRITTEN BY: Carmen Leitch

New treatments for some diseases can have extremely high price tags. One example is Zolgensma, which was developed by the AveXis unit of Novartis to treat a condition called spinal muscle atrophy (SMA). When infants are born without a functional SMN1 gene, they lose the ability to walk, speak, breathe and swallow. A one-time treatment with the new drug aims to replace the missing or dysfunctional SMN1 gene and cure the disease. However, the therapeutic might cost as much as $5 million per patient.

The state of Massachusetts wants to help bring the drug to those who need it by creating a payment plan that insurers can use. "Think of it as [an] installment plan that's then tied to how well the therapy works. This would be a car loan but you've still got to see if the car is going to work," the strategic director of the MIT Center for Biomedical Innovation's NEWDIGS program, Mark Trusheim, told Business Insider.

SMA is a genetic disorder that's a common cause of infant mortality, occurring in about one of every 10,000 births. As many as 25,000 Americans are affected by SMA, but only newborns could be treated with Zolgensma. Massachusetts would expect to need the therapy for about a dozen patients every year.

Some initial tests of the drug have been completed and were successful. A trial of fifteen patients has found that at 24 months, all of the babies that were treated were alive and did not need permanent ventilation. Without treatment, ninety percent of SMA1 patients must be permanently ventilated by that age. In addition, eleven of twelve babies that received the recommended dosage were able to sit unassisted for over five seconds, which is “a milestone never achieved in the natural history of SMA Type 1,” according to Novartis.

After following the consenting patients for several years, Novartis has found that four years after the treatment, these children are meeting their developmental milestones. The most common side effect has been an increase in the level of liver enzymes.

The Food and Drug Administration (FDA) had previously designated Zolgensma as a Breakthrough Therapy and has now granted it Priority Review. Novartis is expecting regulatory decisions from the FDA this May.

"This important step by the FDA brings us ever closer to delivering Zolgensma to patients with SMA Type 1. Babies affected by this rare disease are currently faced with debilitating disease progression and lifelong invasive chronic treatment. As a one-time infusion that addresses the genetic root cause of SMA without the need for repeat dosing, Zolgensma represents a potentially significant therapeutic advance for these patients and their families," said AveXis president David Lennon. 

"The introduction of one-time, potentially curative therapies will require rethinking how our healthcare system manages diagnosis, treatment, care and associated costs for patients with genetic disease,” he added. “Novartis and AveXis are proud to lead the way toward a modern healthcare system built on the tremendous value of truly innovative and transformative medicines that could bend the curve of life. We are committed to flexibly partnering with healthcare stakeholders to ensure appropriate access to our medicines."

Sources: Business Insider, SMA FoundationNovartis

About the Author
  • Experienced research scientist and technical expert with authorships on 28 peer-reviewed publications, traveler to over 60 countries, published photographer and internationally-exhibited painter, volunteer trained in disaster-response, CPR and DV counseling.
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