Healthcast: New hope for spinal muscular atrophy patients

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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 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. Now, there’s new hope.

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,” Amanda Camp, Asher’s mom said.

Richard Finkel, MD, Chief, Division of Neurology at Nemours Children’s Hospital explained, “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.”

Patients with SMA have a flaw in their SMN1 gene so they rely on their SMN2 gene, which does not produce enough protein for proper muscle function.

Doctor Finkel continued, “So what Spinraza does, is it works on this SMN2 gene to try to increase the amount of protein that’s made and try to restore function.”

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 Camp.

Doctor Finkel says early diagnosis and treatment is key.

Doctor Finkel stated, “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; however, long term trials are still being conducted. Spinraza costs about $125,000 per dose. It is covered by most insurances and state Medicaid’s, and must be administered by spinal tap every four months in a hospital or clinical setting.

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