Breakthrough drug offers hope for patients with debilitating muscular disease

All too often we hear the phrases ‘medical breakthrough’ or ‘miracle drug.’ And all too often what follows is disappointment. So far that has not been the case with a drug used to treat one of the most debilitating – and often fatal -- diseases in children.

Ella Casten was 14 months old when she was officially diagnosed with spinal muscular atrophy (SMA), a disease that robs patients of the ability to walk, eat and swallow. At the time, her parents, Lindsay and Michael were given little hope.

“We were initially told, ‘There’s really nothing we can do. There’s no treatment, there’s no cure. Take her home and love her,'” Lindsay said.

In patients with SMA, the gene responsible for producing a protein that fuels motor neurons is defective. That leads to atrophy in the muscles. Patients experience weakness in the hips, legs and spine. For others it’s more widespread and includes muscles in the throat and chest wall, which leads to severe respiratory and swallowing problems.

What was a downward spiral stabilized once the Castens found Dr. Nancy Kuntz, a Lurie Children’s neurologist who had other ideas for Ella that included a feeding tube for extra nutrition and breathing support during her sleep. Ella is now seven years old – a second grader who doesn’t mind giving her sister or brother a ride home from school. And she’s gained strength, something parents, patients and doctors have never seen before when it comes to SMA.

Since May, Ella has been getting infusions of a drug called Spinraza in her lower spine.

"This medication is administered into the central nervous system, into the fluid that bathes the brain, and spinal cord, and all of those motor neurons,” Dr. Kuntz said.

Instead of targeting the defective gene, Spinraza binds to a back-up version – a second copy that then increases normal protein production necessary for motor neurons to work properly.

“Lovely, absolutely amazing. The science is beautiful,” Dr. Kuntz said.

Even more beautiful: Ella feels the difference in her strength since starting the drug.

"I thought I was getting really strong like other people,” Ella said.

Ella’s results mirror those of what other patients have experienced. The drug was so effective during clinical trials, investigators urged the FDA to approve it quickly so it could be more widely distributed. But with its success comes an exorbitant price: $125,000 per dose. And patients require four injections up front, followed by an indefinite course of maintenance doses every four months.

We asked the drug’s maker, Biogen, about the price. A statement provided to WGN from Biogen Public Affairs read:

“The price of SPINRAZA was determined through a rigorous and thoughtful process that included conversations with payors prior to setting the price. We considered the breakthrough clinical value of SPINRAZA, the epidemiology (incidence and prevalence) of SMA, which is a rare disease, the drug’s impact to the healthcare system, and the need to advance science through the ability to fund additional research and development.”

But Biogen does help patients whose insurance providers deny coverage. In some cases, the company has provided the drug free of charge. The Muscular Dystrophy Association has poured millions of dollars into SMA research.

“I’ve been working in the pharmaceutical industry and healthcare industry for decades, and this is probably one of the most significant advances I’ve ever seen,” said Lynn O’Connor Vos, MDA CEO and president.

For Ella, she may be too young to understand the significance, but she knows it’s turned her life around.

“It will push that SMA back, and I will get more stronger every day maybe,” she said.

The next step in the works is gene replacement therapy -- a treatment that could possibly wipe out the disease. And efforts are underway to include SMA in the genetic screening process for infants – that way the tiniest patients would receive the drug as early as possible, where it’s been shown to be the most effective.

Learn more about the treatment of neuromuscular diseases online.