A 2½-year-old Easton girl who was deemed ineligible for the world’s most expensive drug will get the $2.1 million medicine to treat her rare genetic disease, after all.
Illinois-based AveXis, a subsidiary of the Swiss drug giant Novartis, has agreed to provide Zolgensma, an intravenous gene therapy that requires only one dose, free to Natalia Boidi through a compassionate use program. She has spinal muscular atrophy, which kills more infants than any other inherited disorder.
“I was shocked, but I’m excited and I’m very grateful,” her mother, Marisa Boidi, said Monday of AveXis’s reversal, which followed a Globe story on Thursday concerning the denial of her application. “It’s going to give her a better chance at life.”
Afflicting one in every 6,000 to 10,000 babies, spinal muscular atrophy, or SMA, attacks the neurons that control muscle function. Its most dire form kills most children by their second birthday.
Natalia can’t swallow liquids, has a feeding tube inserted into her abdomen, uses a breathing machine at night, and often needs her parents to clear mucus from her airways with a suction device. During a reporter’s recent visit to her house, she watched TV with an oxygen monitor tethered to the big toe on her right foot.
Before the drug won Food and Drug Administration approval on May 24, AveXis had been providing it free to some patients under its compassionate use protocol. But the program was limited to children with Type 1 SMA, the worst form of the disease. Based on Natalia’s medical records, the Novartis subsidiary concluded that she had Type 2, a milder form, and denied her application.
But after receiving more documentation from Natalia’s neurologist at Massachusetts General Hospital after the Globe story was published, AveXis concluded the toddler did indeed have the worst form and was entitled to receive Zolgensma as an experimental drug.
“We are pleased that we are able to treat this child” under the program that AveXis set up with the FDA “now that we have received the proper documentation,” a company spokeswoman said in an e-mail to the Globe.
Although the compassionate use program ended the day the FDA approved Zolgensma, Natalia and several other patients were already in a queue to receive it if deemed eligible, AveXis said.
Natalia is expected to get the medicine later this month, according to the staff of her neurologist, Dr. Kathryn Swoboda.
The FDA approved Zolgensma for all forms of the disease, but only for children up to the age of 2. The compassionate use program made the drug available free to Type 1 patients older than 2 if they weighed less than 29 pounds and met other criteria. Natalia weighs 26 pounds.
Swoboda said she believes the turn of events illustrates that the way the medical world classifies the four forms of spinal muscular atrophy may need to change.
There was never any doubt in her mind that Natalia had the worst form, Swoboda said. Natalia began gasping for air in 2017, when she was about five weeks old, and had a breathing tube temporarily inserted into her throat. She spent more than two months in the pediatric intensive care unit at Mass. General.
But since late 2017, Natalia has received 10 injections of an earlier breakthrough drug, Spinraza, sold by the Cambridge biotech Biogen. Approved the year before, Spinraza was the first treatment for spinal muscular atrophy. It’s injected into the spinal canal and helps make more of a protein that controls muscle movement.
That drug doesn’t come cheap, either: It’s $125,000 for each 5-milliliter dose. Patients need six doses the first year, at a cost of $750,000, and three doses every year afterward, at an annual expense of $375,000.
Spinraza saved Natalia’s life, Swoboda said. But the girl’s survival and ability to sit briefly now, the neurologist said, evidently led AveXis officials to incorrectly believe she had the less severe form of the disease and didn’t need Zolgensma.
“I think it’s the right decision,” she said of AveXis’s change of heart. “I personally believe she will have a significant added benefit from the gene therapy. Spinraza has helped her tremendously. But she has a lot of ongoing medical issues.”
In clinical trials, Zolgensma helped infants and young children breathe on their own and achieve motor milestones, like sitting up without support.
AveXis hardly wants more controversy about Zolgensma. Last Tuesday, the FDA disclosed that the company had delayed disclosing to the government that one or more people at the subsidiary had manipulated animal testing data for the gene therapy, although the agency said the drug should remain on the market.
A group of senators, including presidential hopefuls Elizabeth Warren of Massachusetts and Bernie Sanders of Vermont, subsequently blasted Novartis in a letter to the FDA. The data manipulation, they wrote, “smacks of the pharmaceutical industry’s privilege and greed.”
The FDA has said it’s considering whether to bring civil or criminal penalties against Novartis and its subsidiary.