Spinal muscular atrophy is a genetic disorder that affects the area of the nervous system that controls muscle movement. This leads to an inability to voluntarily move muscles which then causes skeletal muscle atrophy.

This genetic disease is caused by a loss of motor neurons, specialized nerve cells that directly control all of your muscle movements. Anything that involves muscle movement of any kind, such lifting a glass or combing your hair, to name a few, are controlled by your motor neurons.

Motor Neurons
Motor Neurons are responsible for all muscle movement. These directly control all movement that requires use of our muscles U.S National Library of Medicine

This disease strikes in about 400 babies every year in the U.S. And the medicine for spinal muscular atrophy has recently been approved by US regulators.

The drug, Zolgensma, was developed by Novartis and approved by the Food and Drug Administration last Friday for children aged 2 years old and below. These children are to take a genetic test to identify whether they have any of the four types of spinal muscular atrophy.

infusion
The most expensive drug, Zolgensma, is a one-time infusion and takes about an hour. A significant change compared to Spinraza Stefan Schweihofer / Pixabay

Zolgensma will be available within the next two weeks. The therapy is a one-time infusion and will take about an hour. The drug, however, has recently gained quite a bit of attention due to its price.

It’s the most expensive drug ever to be approved by the FDA, coming in at $2.125 million. Novartis claimed it will allow insurers to pay over the course of 5 years, at $425,000 per year, and promises to give partial rebates in the event that the drug does not work.

Spinraza, the other treatment for the disease that has been approved in the U.S., is priced at $750,000 for the first year of treatment and then $350,000 every year after. Unlike Zolgensma, Spinraza is to be administered during initial treatment and then given every four months after.

dystrophic-arm-muscle
Spinal Muscular Atrophy is characterized by the loss of movement in skeletal muscles. This leads to muscular atrophy, a condition in which muscles shrink or waste away due to lack of use Alila Medical Media/Shutterstock.com

With regards to patient testing, babies afflicted with the most severe type of the disease but were given treatment within six months of their birth had limited muscle problems. It seems that when it comes to treatment of spinal muscular atrophy, the earlier the better.

Babies who had spinal muscular atrophy were given Zolgensma after six months and were found to have stopped losing muscle control. The drug, however, was not able to reverse any damage already present.

RELATED STORIES