Easton toddler denied $2.1m gene therapy will now get it for free

Authored by bostonglobe.com and submitted by bustead

“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.”

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.

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.

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.

Jonathan Saltzman can be reached at [email protected].

davis946 on August 15th, 2019 at 20:24 UTC »

Lol this thread is half “WHY DOES IT COST SO MUCH ARGHHHHHH” and half “here’s the reasonable explanation why”

lodleader on August 15th, 2019 at 20:10 UTC »

We lost our son at 10 months old to SMA type 1. This was 6 years ago, we had no idea we were carriers of the damaged gene until he was diagnosed.

We helped raise funding for this and other cures, we're so happy that a cure has been discovered.

sloanj1400 on August 15th, 2019 at 19:57 UTC »

Ok everyone needs to understand the reason why it “costs” $2.1 million. AveXis, the company that makes the therapy and a subsidiary of Novartis, is doing groundbreaking work. This is gene therapy, not your basic drug manufacturing. It’s going to cost this much.

Imagine, they have to build facilities all over the US. Fully staffed with specialists trained to culture the viral vector, maintain it in cell lines, periodically maintain its integrity, make sure its not contaminated. It’s a thousand times more labor intensive than manufacturing a chemical drug (which you can simply store in a warehouse when you’ve done it). All of this work, for a condition which only affects 500 children per year. There is no other decent treatment, children born with SMA rarely live past 3, and can’t even sit up straight without assistance. This extremely sophisticated therapy works miraculously well. Many of these kids (with only a one time injection) are even walking and running as if nothing was wrong.

Eventually, as more gene therapy treatments for more conditions are available, the costs will drop. You can have 5 fully staffed facilities working on treatments meant for millions of patients rather than 500 per year. So $2.1 million treatment today may become a few hundred thousand in a decade.

At the end of the day, our issues with cost mainly come down to insurance companies, not these new gene therapy companies. No patient should ever have to pay for this. Society as a whole should split the costs, which is basically what insurance plans are. Don’t look at this and think “big Pharma” that’s a totally misrepresentation of the situation. Their work is extraordinary.

Edit: some have said “recouping the investment” is the reason for the price. For drug manufacturers that’s true, but for gene therapy treatments it’s more about “actually paying for the thousands of specialists that are needed to manufacture it.” The research was done by public universities, that’s not the issue. Gene therapy is a revolution in medicine, and it’s expensive as hell, but with health insurance reform in the US, we could split the cost as a society.

Edit Edit: Before more people start reddit-fighting each other, let me point out that healthcare for many life threatening conditions is crazy expensive. Take cancer. My dad overcame kidney cancer when I was in middle school. He had to be monitored for months on end, by dozens of nurses, doctors, specialists etc. It took advanced drugs, expensive medical technology, and two surgeries to cure him. We had insurance, which covered the more-than $15 million it took in labor, equipment, treatment, etc.

This is how insurance works. This is why we have it. We know that some diseases are ridiculously difficult to cure. That in order to save a patient, it would cost several millions of dollars. But we also know that they are rare. This allows us to become part of an insurance group. Where many individuals pay into a pool, so that when one gets sick, and requires several millions of dollars, they can take from that pool of money. Now, of course there are scandals and flat out evil behavior at drug companies from time to time. We can all work to prevent that by requiring transparency, or reevaluating patent laws. That’s not the case here. This treatment is expensive, because it is so labor intensive to make.

In the US, we have a pretty horribly inefficient health insurance system. It’s a collection of thousands of administrative workers, hundreds of public and private companies, that form a patchwork system of employer mandated insurance, which isn’t universal since its often unaffordable unless your employer is paying for it. We can reform this system in many ways, perhaps by simplifying the administration by creating a single national insurance program that could more easily cover costs like this $2.1 million cure. But it’s well worth it to save a life, and because it’s so rare, we can use an insurance system to cover this so that no parent needs to fear having a baby with SMA would destroy them financially. Nobody needs to face that if we pool the costs like we do with cancer. This is a miraculous achievement, since before this drug, SMA type 1 was a heartbreaking death sentence which kills within the first few years.

And to some of our European friends making that “only in America” comment, it costs the same for you too. You just are never burdened by noticing the costs, since most of your countries have you on a national insurance program which pools money and handles it for you. But this treatment is about to come to market in the EU, and your country’s insurance system will be paying $2.1 million for the treatment to save that child, and you’ll never see a price tag.