‘Excited for Next Generation,’ People Living with SMA Say of Leap in Treatment Options

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by Grace Frank |

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Courtesy of Kevin Schaefer

Kevin with his mom, Cindy Schaefer. (Photo courtesy of Kevin Schaefer)

Within a lifetime, spinal muscular atrophy has leapt from a disease “nobody knew anything about” to a treatable — albeit chronic and still rare — condition. It is an “amazing” and welcome advance, say people who have lived with SMA for more than 20 years.

“I’m kind of in shock,” Abby Quinn, a 24-year-old North Carolinian with type 3 disease, said of Zolgensma’s approval on May 24 as the first gene therapy for SMA or any neurologic disease.

No treatment existed to stop the relentless progression that left Quinn unable to walk at age 7, and fully wheelchair reliant by the time she was 12. “When I was diagnosed” in late 1997 or early ’98, she said, “they didn’t even have a blood test.”

SMA now has two disease-modifying therapies, Zolgensma (onasemnogene abeparvovec-xioi, by Novartis and AveXis) and Spinraza (nusinersen, by Biogen), approved in late December 2016.

“It’s monumental,” said Brent Dixon, 31, of Valdosta, Georgia, who was diagnosed with type 2 in 1989. “To know that a future is going to be set right for people with SMA.”

Added Quinn, “I’m honestly in shock that people were smart enough to put these things together, and they work.”

Quinn remembers her mother turning to the local “public library” for information, and neighbors fearful to touch her “because I had SMA and they were like, ‘I don’t know what this is.'”

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Cindy Schaefer, whose 25-year-old son, Kevin, has type 2, remembers doctor visits where she was asked, “Well, what do you think we should do?” Dixon’s parents were first told he wouldn’t live to age 3, and later, 13.

No doctor in our area — and we live in an area with pretty high-end medical care — knew anything about it” in 1995, when Kevin was diagnosed shortly after his second birthday, Schaefer said. The family lives in the Durham, N.C., area, home to Duke University, where Kevin — now community development manager for BioNews Services, this site’s parent company — is treated, and home to the University of North Carolina at Chapel Hill.

Schaefer spoke of Zolgensma, like Spinraza before it, as an “astonishing” pivot for the SMA community. “Never in a million years,” she said, “did we think that, at this point in his lifetime, we’d have a choice of treatment,” much less a gene therapy “that’s about as close to a cure as you can be.”

But that knowledge also is somewhat bittersweet.

The possibility of Zolgensma being able to treat older SMA patients — it was approved for all types but only through age 2 using intravenous (IV) infusion — is still a future one. Children older than 2 years through to adults would be administered the therapy using intrathecal (IT), or spinal cord, injection, and that more direct and targeted route is not yet under FDA consideration. (It’s being evaluated in a clinical trial — still enrolling patients — the Phase 1 STRONG study (NCT03381729), in type 2 infants through 5-year-olds.)

Questions also abound as to whether Zolgensma would be an ideal treatment for adults, given the years’ toll on their motor neurons, or if, as a second therapy, it would be possible, given its $2.1 million upfront price.

“Do you give up something that’s showing gains for an unknown?” Schaefer asked about Zolgensma. “What’s the right answer there? I don’t know.”

Both Kevin and Abby use Spinraza, at $375,000 a year after a first $750,000 “loading dose” year. Biogen has kept that price constant since the IT infusion’s introduction, but Schaefer wondered about any “insurance company agreeing to pay for two treatments at the cost they are.”

Every four-month treatment and the associated costs for both are covered by private insurance supported by Medicaid. The Schaefers also are enrolled in Biogen’s patient support program for Spinraza, called SMA360. AveXis hosts a similar program that includes financial advice for Zolgensma, called OneGene, which caregivers and healthcare professionals can reach by calling 1-855-441-GENE (441-4363).

“I understand the science and the research and the new technology and the time and the effort … to create these drugs, both Spinraza and gene therapy,” Quinn said. Still, “it’s a hard pill to swallow, whenever you tell someone $2.1 million … I would never see that money, ever, in my lifetime.”

Dixon spoke of being “a little bit angry” at learning of Zolgensma’s cost. “You make this amazing drug,” he said, “but nobody can afford it.”

Schaefer, with Quinn, recognized as equally “crazy” the costs of SMA running its natural path — ventilation, feeding tubes, and wheelchairs, to name a few — as well as those of a lifelong treatment.

Spinraza has worked well — without notable side effects — for these two, with Kevin showing a “huge, huge bounce in energy” and immediately stronger voice; his mother credits his eight treatments with having “stopped the progression of his disease.” Likewise, Quinn speaks of much greater “upper-body strength … more stamina and, overall, feeling better” after seven infusions.

Dixon, with Biogen’s assistance — he now has a case manager — is fighting insurance refusal of his requested Spinraza treatment, a denial he said was age-related. “I’m over 21, and we’re arguing that’s not a reasonable basis to deny me,” said Dixon, married and the father of two healthy children. He hopes to start treatment this summer.

Patients also are following with interest clinical trials underway with risdiplam, a potential oral (liquid) SMA therapy being developed by Roche and Genentech.

Like Spinraza, risdiplam works by boosting the ability of the SMN2 gene to generate a full-length and functional SMN protein. Zolgensma, in contrast, works to transfer (using a harmless virus) a healthy SMN1 gene to essentially replace the disease-causing one. SMN1 is main source of the SMN protein essential to motor neuron survival and muscle health.

I have a whole lot of questions, and want to see more of what the research says for adults” before considering a switch, Quinn said. “Just the fact that all this technology has built up in just two years, intrathecal to ‘Hey, it’s like cough syrup!’ … That’s awesome.”

When I’m at an event and run into families there whose babies have been treated at birth — by anything, Spinraza or gene therapy — and they’re running around like they’re normal, it’s just amazing,” Schaefer said. “You can’t put a price on that.”

“I’m really excited for the next generation, this is all for the future,” Quinn added. “As much as I would love to have a one-time treatment … I understand the greater good of treating the people to come.”