“Great news!” was the reaction of one SMA News Today columnist to word of a first gene therapy, Zolgensma, being approved to treat infants and children up to age 2 with spinal muscular atrophy, while others on the site’s SMA community forum called it “an amazing advancement” and “such a blessing.”
People leaving comments in this forum and the site’s Facebook page are all adults living with this severe genetic and neuromuscular disease, and a good number are freelance writers — columnists — sharing their experiences, thoughts and feelings as they go about their everyday lives with SMA News Today readers.
All were also following closely news of Zolgensma’s development from its earliest studies, when it was known as AVXS-101 and showing promise in a Phase 1 clinical trial (NCT02122952) that opened in 2014 in 15 type 1 infants less than 6 months old. These children, some now followed for five years, continue to show survival and motor benefits in striking contrast to SMA’s natural history after one intravenous (IV) infusion.
Zolgensma (onasemnogene abeparvovec-xioi) was approved by the U.S. Food and Drug Administration on Friday to treat all SMA types in pediatric patients with biallelic mutations in SMN1, meaning defects in both copies of a gene responsible for producing the SMN protein that’s essential to motor neuron health and survival, according to the FDA’s label.
As such, Zolgensma can be given as a one-time IV infusion to pre-symptomatic infants through toddlers up to 2 years old diagnosed with, or likely to develop, types 0, 1, 2, or 3.
SMA News Today readers and columnists are looking toward what might come next in a gene therapy that its developers at AveXis and Novartis call “a truly … foundational treatment” and one with potential to be a “sole treatment” for SMA patients.
“Though I’m 576 months too old for this treatment,” wrote Jason Wooding on the Facebook page, “it instills a bit of hope.”
“It almost seems like something from a science fiction novel. What an amazing advancement in science. It’ll be exciting to see where they go from here,” DeAnn Runge wrote on the forum that she also oversees as moderator. “This will change the face of SMA as we know it,” she said in an earlier interview.
Still, “I have to wonder if … Zolgensma will be the treatment of choice for children under 2 and Spinraza will be for everyone else,” Runge wrote.
Spinraza (nusinersen), by Biogen, is the first disease-modifying treatment for SMA, and widely approved to treat all types and patients regardless of age. It works on the SMN2 gene so as to produce full-length and functional SMN protein, and is given as an intrathecal injection every four months, after four initial loading doses.
“At one point in time, I never thought I’d see the day that there was an SMA treatment, let alone two,” Halsey Blocher, also a columnist, said on the forum, calling the approval “such a blessing.”
“Hope to see this studied for adults in the near future!” Blocher added.
“Now lets get it for us older SMA and type 2s and 3s!” echoed Jen Kariman on Facebook.
But older children and adults with SMA types 2 and 3 will be treated with Zolgensma as an intrathecal (IT) injection directly into the spinal canal, and that form of administration is not yet approved. A more targeted approach, IT injection is the focus of the Phase 1 STRONG trial (NCT03381729) underway in SMA type 2 children between 6 months and 5 years old who are able to sit independently for 10 or more seconds. It is now enrolling at sites across the U.S.
Children treated in STRONG are responding well, David Lennon, AveXis president, said in an interview with SMA News Today this month.
“We are seeing strong efficacy … very rapidly,” Lennon said. “Most patients are responding within the first month of treatment … with very low rates of adverse events being reported so far.”
News like this has Michael Morale, director of multichannel content at BioNews Services (this site’s parent company), who has SMA type 3, anticipating that IT delivery for people like him won’t be too far away.
“You don’t need a crystal ball to look into the future,” Morale said in an interview. “I don’t think it will be long before they start broadening the label even more to include adults.”
The gene therapy’s price — $2.125 million for an upfront payment and about $425,000 per year under a five-year installment plan — also didn’t particularly worry those commenting.
“I was actually surprised, in a good way, at the price,” Luna F. said on the forum. “I was expecting it to be much closer to the $4-5 million range that had been first suggested. At $425,000 per year for 5 years, it’s close to Spinraza’s price when you factor in the costs of the procedures every 4 months, and then there’s nothing beyond that which makes it significantly more cost effective over the long run.”
Kevin Schaefer, a columnist with SMA type 2 who is also BioNews’ community development manager, delighted in knowing that babies born today with this crippling disease have another treatment offering them a chance for a fully active life.
“Great news!” Schaefer wrote on the forum at Zolgensma’s approval. SMA’s youngest patients may now “be able get their treatment at an early age — before they’ve experienced any of the detrimental effects of having the disease — so they will to be able to meet the milestones of typical children,” he added in an interview.
Another Facebook commentator felt much the same way. “Makes me tear up to know the next generation of kiddos with SMA may never have to experience the hardships or sufferings” of “those who have come & gone before them,” Lori Flynn Butierries wrote.
Added Wooding: “So glad it works for the younglings.”
Susan Boswell, a freelance journalist with BioNews Services, contributed to this article.