Suhellen Oliveira da Silva was six months pregnant when she learned that the child she was carrying had the same disease that left her eldest son paralyzed and almost mute. But this time there was a treatment available that could make a huge difference. This baby could have a normal life.
The problem was the price: the treatment cost the equivalent of US$ 1.7 million (R$ 8.7 million), and the public health system in Brazil, where the family lives, refused to pay.
So Silva sought justice — and won. A judge ruled that the government should buy the therapy for his youngest son, Levi.
Today, Levi, 2, is clapping his hands and groveling — things his older brother Lorenzo, 10, was never able to do.
The treatment, called Zolgensma, a single-use infusion, is among the first in a new class of cutting-edge gene therapies that hold great promise for people with life-threatening or debilitating conditions — at extremely high prices. Its manufacturer, pharmaceutical company Novartis, has negotiated agreements with national health systems and insurers to obtain coverage of the drug in many wealthy countries.
Now, with sales slowing, the company is pushing for broad coverage in middle-income countries like Brazil, whose public health systems are often fragile and underfunded.
Zolgensma, which treats a rare genetic condition known as spinal muscular atrophy, or SMA, was for some time the most expensive treatment in the world. It has become a closely watched test of whether these therapies can gain widespread coverage around the world and what the tradeoffs might be.
Brazil’s experience with Zolgensma shows the challenges that the daunting prices of these therapies will pose for governments and insurers with limited budgets. These challenges are set to multiply in the coming years as more similar treatments become available for larger groups of patients.
After more than 100 successful lawsuits by families that forced the SUS to pay for their children’s treatment, the government announced in December that it would start covering Zolgensma for babies with more severe cases of AME later this year.
The government has agreed to pay the equivalent of around US$1 million (R$5.14 million) for treatment – far less than some other governments are paying, but still a staggering amount for Brazil’s overburdened system.
In a government hearing on the issue of coverage, deputy Adriana Ventura (Novo) expressed solidarity with families seeking treatment, but said: “We also cannot be irresponsible and approve something that is not sustainable in the long term.” She added that the concern is that “to give it to one, you have to take the basics away from millions of others”.
Spending on Zolgensma has already consumed an extremely disproportionate share of resources. A researcher-led analysis for Brazil’s drug regulator found that court-ordered spending in the first 14 months of Zolgensma’s availability could have paid for more than 4 million doses of the Covid-19 vaccine.
Among the most inaccessible are gene therapies, such as Zolgensma, which promise to transform hereditary diseases with a single treatment.
Zolgensma’s list price of $2.1 million in the United States in 2019, considered the highest ever, has already been surpassed four times, and many other treatments that should be equally expensive are on the horizon.
“This is the long-awaited wave of innovation that will help address some fatal and life-threatening conditions,” said Steven Pearson, president of the Institute for Clinical and Economic Review, which assesses the value of drugs. “But if it comes all at once and payments cannot be extended, it will have a crushing effect.”
This is the long-awaited wave of innovation that will help tackle some fatal and life-threatening conditions.
Record prices for gene therapies largely escaped the criticism that followed other industry pricing decisions. The sentiment reflects how powerful many of the gene therapies — doctors sometimes go so far as to call them cures — are and their unique position as unique treatments. This therapy has only one shot at making money, and in some cases it can replace chronic treatments that would otherwise be administered for the rest of the patient’s life at a much greater cumulative cost.
Still, for middle-income countries, “if the benefits of these therapies are immediate in terms of health, but the potential savings happen in the future, that math might not work,” said Rena Conti, a health economist at the Questrom School of Management. from Boston University.
Tay Salimullah, an executive at Novartis, said the company had worked closely with governments and health plans to assess the possibility of covering Zolgensma, in some cases allowing them to spread the payment over time, like a mortgage, or offering a price cut if the treatment does not work.
In Brazil, the agreement with Novartis provides that the government divides the payment for each treatment into five equal installments over four years. If a patient dies, needs to be permanently ventilated, or is unable to maintain certain motor functions two years after receiving Zolgensma, the government will not be required to make subsequent payments.
‘This boy has a future’
Until six years ago, there were no approved treatments for SMA, which affects about 1 in 10,000 newborns. Babies with the most severe form of the disease were sent home and their families were told to prepare for death.
Zolgensma and two other drugs approved since 2016 have opened up previously unimaginable possibilities for SMA patients. “I’m telling parents to keep putting money into the college fund because this kid has a future,” said Dr Thomas Crawford, who treats SMA patients at Johns Hopkins Medicine.
Zolgensma works by replacing the missing or dysfunctional gene that causes SMA with a working copy of the gene. It has been administered to over 2,500 children and approved for use in 46 countries. Novartis says that more than 35 of these countries have “access roads” in place.
Studies show that Zolgensma can stop babies and young children from continuing to lose nerve cells that control muscle movement, preventing further decline, but it cannot restore motor or muscle function that older children have already lost.
If Zolgensma is given soon after birth, children may not develop significant disabilities. Those given the drug when they are a little older may avoid a feeding or breathing tube and may be capable of some movement, rather than spending their lives immobile like Lorenzo.
In most cases, patients have been able to access Zolgensma without problems in the United States, Britain and Canada, according to doctors and patient groups there. But several American parents and their advocates described delays of months when health plans temporarily failed, and children began to show signs of EMA while waiting for treatment.
In Brazil, where more than half of the population of around 216 million depend on the public health system, families looking for Zolgensma for their children try to raise funds through “crowdfunding” sites or get it free of charge through through a clinical trial.
But most of the time, they went to court. Until November, judges forced the Brazilian health system to pay for 102 treatments with Zolgensma at an average cost equivalent to US$ 1.6 million, according to the Ministry of Health.
Right to health
Silva had never heard of SMA when Lorenzo was diagnosed at six months in 2013. He was developing normally, and then his progress suddenly stopped. The doctors said there was nothing to be done.
When Silva learned in 2019 that she was unexpectedly pregnant with Levi, doctors told him he might not have AME deficiencies if she got him Zolgensma right after birth.
The family struggled to survive. Silva quits his travel agent job to fight for home care and full-time therapies for Lorenzo; Her husband, Azen Balbino, had spells of unemployment during the Brazilian recession. They knew they would have to rely on a court case, in which they sue the federal government invoking the constitutionally protected right to health to force the public system to pay for a drug or therapy it would not otherwise provide.
While Silva was still pregnant, she enlisted the help of Viviane Guimarães, a lawyer from Recife (PE), who took on her case—lawyers in such court battles typically do not charge the families they represent. When the government loses a case, it can be ordered to pay a fee to the winning family’s lawyer, but that payment is withheld when the government appeals a decision, as it did in the Levi case.
When Guimarães presented himself to the judge to defend an expensive therapy, he argued that it would save the government money, compared to other drugs that Levi would have to take throughout his life and the cost of all the care he would need without the single therapy.
Lorenzo receives three types of therapy every day. He watches cartoons while a physical therapist visits twice a day to press on his chest and suck out secretions that would otherwise suffocate him.
He communicates with Silva through a breathless whisper and blinking and pinching the cheek he can still move. Meanwhile, Levi climbs up Lorenzo’s limp legs, singing along to the television and giving imperious orders for things like popsicles and cookies to the health aide, one of three who take turns staying at Lorenzo’s bedside 24 hours a day. .
Although Levi hasn’t reached all the normal developmental milestones for a child his age, he is mobile and talkative. He has occupational therapy and physical therapy on a daily basis and continues to make progress in his physical development.
When Guimarães won a favorable decision in the Levi court battle, the federal government had to set aside the money to buy Zolgensma. Silva hurried to the bank to collect the money, which he sent to a Novartis account in Ireland, which then sent the medicine. She and her husband rushed to São Paulo with Levi to be on standby at a hospital willing to do the infusion. He received the tiny 47.8 milliliter vial of Zolgensma at 16 months old.
Every time she sees her two children together, Silva is reminded of Zolgensma’s awesome power. Her happiest moments, she said, are when she’s with Levi and he reaches out, touches her face for attention and demands “Mommy, Mommy” like any other child.
“Levi talks like a child who doesn’t have AME,” she said.
Translated by Luiz Roberto M. Gonçalves
I have over 8 years of experience in the news industry. I have worked for various news websites and have also written for a few news agencies. I mostly cover healthcare news, but I am also interested in other topics such as politics, business, and entertainment. In my free time, I enjoy writing fiction and spending time with my family and friends.