(Corrects to show approved for all types of SMA)
By John Miller and Caroline Humer
ZURICH/NEW YORK, May 24 - Swiss drugmaker Novartis won U.S. approval for its gene therapy Zolgensma for spinal muscular atrophy (SMA), the leading genetic cause of death in infants, the company said on Friday, a one-time treatment expected to push the pricing boundary for rare diseases to new heights.
The company said it would charge $2.125 million for the therapy, the highest priced drug on the market yet. U.S. regulators approved its use in pediatric patients under age 2 with all types of the disease from the most severe Type 1 to Type 4.
Novartis touched off a debate over what gene therapy is worth last year, estimating its treatment would be cost effective at up to $5 million per patient. A review in April by an independent U.S. group, the Institute for Clinical and Economic Review (ICER), concluded Novartis' value estimate for Zolgensma was excessive.
Novartis Chief Executive Vas Narasimhan has much riding on Zolgensma, describing it as a near cure for SMA if delivered soon after birth. But data proving its durability extends to only about five years. The therapy uses a virus to provide a normal copy of the SMN1 gene to babies born with a defective gene.
Novartis is expecting European and Japanese approval later this year. Zolgensma will compete with Biogen's Spinraza, the first approved treatment for SMA.
The disease often leads to paralysis, breathing difficulty and death within months for babies born with the most serious Type I form. SMA affects about one in every 10,000 live births, with 50 percent to 70 percent having Type I disease.
Spinraza, approved in late 2016, requires infusion into the spinal canal every four months. Its list price of $750,000 for the initial year and $375,000 annually thereafter, was also deemed excessive by ICER.
Some neurologists see gene therapy becoming the preferred treatment for newborns with severe SMA, while acknowledging that families may choose to wait for long-term safety and efficacy data for Zolgensma. Novartis is looking into whether the death of one severely ill baby treated with Zolgensma was related to the therapy.
"Most families will want to do the gene therapy since it avoids the frequent spinal taps," said Dr. Russell Butterfield of the University of Utah in Salt Lake City. Butterfield has received payments from Biogen for consulting.
The FDA approval was based on a study of 15 children with Type 1 SMA, all of whom are still alive up to five years after treatment. Of 12 babies who got the now-approved dose, 11 could sit unassisted, and at least two are walking, researchers reported.
With three additional studies underway, Novartis said it has so far treated more than 150 patients.
Novartis acquired Zolgensma with its $8.7 billion purchase of Chicago-based AveXis last year.
Wall Street analysts have forecast sales of $2 billion by 2022, according to a Refinitiv survey. Spinraza sales hit $1.7 billion last year, and are seen rising to $2.2 billion in 2022. Roche is developing risdiplam, an oral drug, for the condition and plans to file for approval later this year.
A PUSH FOR SCREENING
Novartis, Biogen and Roche, as well as patient advocates and neurologists, say babies with SMA who receive treatment before symptoms emerge stand the best chance of near-normal development. They are lobbying to make SMA screening standard for newborns in every market.
"Babies are losing motor neurons from the day they are born, so the ability to treat them as early as possible is the way you get maximum value out of the therapy," David Lennon, who heads Novartis' AveXis unit, said in a recent interview.
Dr. Laurent Servais, a child neurologist in Liege, Belgium, called any delay in implementing newborn SMA screening "completely unethical."
Servais helped oversee a screening pilot program sponsored by the three companies. He showed government officials videos of a girl who is nearly normal after early treatment with Spinraza, and her older, profoundly disabled brother, who got the drug after his symptoms emerged.
Southern Belgium is now screening 60,000 newborns annually, half the country's total births. Taiwan has also begun testing babies for SMA.
But widespread adoption has a long way to go. In the United States, only a few states - Minnesota, Missouri, New York, Pennsylvania, Utah and Vermont - have begun active and routine SMA newborn screening since the federal government recommended it in 2018. Patient advocates estimate it could take until 2022 for the testing to be implemented nationwide.
In Europe, the may be even slower.
England recommended against newborn screening in February and will not consider it again before 2021, a spokesman for Public Health England told Reuters. SMA advocates in Germany do not expect action on screening until late 2021.
"It's astonishing," said Inge Schwersenz, of the German Society for Neuromuscular Diseases. "But we can't do anything to speed it up." (Reporting by John Miller and Caroline Humer Editing by Michele Gershberg and Bill Berkrot)
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