Breakthrough drug for kids with SMA

ORLANDO, Florida – Asher Camp is now four and a half years old. He was diagnosed with Spinal Muscular Atrophy at just six months.

“For days we were crying, because we just knew what we were about to face,” admitted his mother Amanda.

Spinal Muscular Atrophy, or SMA, is the number one genetic cause of death for infants today.

It is a disease that robs a person of their physical strength, affecting the motor nerve cells in the spinal cord.

It takes away the ability to walk, eat, and even breathe.

Without feeding tubes and other support methods, about three quarters of babies with Type One SMA die before the age of two.

“What we’ve learned through the clinical trials with spinraza is that definitely the drug improves both survival and the ability to improve in their motor function”, said Dr. Richard Finkel, chief of Neurology at Nemours Children’s Hospital.

Patients with SMA have a flaw in their SMN-1 gene so they rely on their SMN-2 gene, which does not produce enough protein for proper muscle function.

“So what spinraza does, is it works on this SMN-2 gene to try to increase the amount of protein that’s made and try to restore function,” explained Dr. Finkel.

Spinraza or nusinersen was approved by the FDA in December of 2016. The results have been transformative for Asher.

“He is doing things like crawling and sitting up, he’s able to balance himself while standing,” said his mother.

Dr. Finkel says early diagnosis and treatment is key.

“Hopefully the word is getting out to neurologists who would be caring for these babies to say that SMA is now a treatable disease.”

There seem to be no negative side effects to the drug. But, long term trials are still being conducted.

Spinraza costs about $125,000 per dose.


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