In her role as a Stanford anesthesiologist, Alyssa Burgart, MD, doesn’t see patients with spinal muscular atrophy as often as the neurologists who regularly treat them. Until recently, Burgart mostly saw SMA patients when they could no longer breathe on their own and needed a tracheostomy tube, or when they needed a spinal fusion.
The traditional treatment for SMA patients, whose disease robs them of muscle strength, was to make them more comfortable and improve their lives as the debilitating disease progressed.
But last year, the Federal Drug Administration’s approval of a drug called nusinersen changed everything. The approval came just months after the FDA halted a blind drug trial and gave expanded access to the tiniest patients — infants with SMA-1 — because it seemed clear that patients who were getting the drug showed significant improvement when compared with babies who weren’t getting it.
Now when Burgart sees SMA patients, it’s often because they’re receiving a nusinersen spinal injection, which can require anesthesia, and her interactions include her asking parents about any effects they’ve seen.
“I have parents who are showing me videos of their kids doing things they’ve never done before. It’s very emotional,” said Burgart, medical director of clinical ethics at Lucile Packard Children’s Hospital Stanford and assistant professor of anesthesiology, perioperative and pain medicine at the School of Medicine.
She calls this an exciting time for clinicians who treat SMA, but also a time of concern, especially because the $125,000-per-dose cost of the drug could limit long-term patient access to it and the ability of clinics to provide it. Burgart was the lead writer of a paper she and bioethicists here and across the country wrote about ethical issues surrounding nusinersen. I wrote a story on the paper, which was published yesterday in JAMA Pediatrics with an accompanying editorial.
Spinal muscular atrophy is a rare genetic disease that interferes with the body’s ability to make the survival motor neuron protein, without which patients lose muscle control and strength, and eventually the ability to move, swallow or breathe. Nusinersen enables the body to make more of the survival motor neuron protein. The most common type of the disease is SMA-1, which is diagnosed in babies between birth and 6 months old. Most SMA-1 patients die before their second birthday. SMA patients who are older when they’re diagnosed can live much longer.
Stanford neuromuscular doctors and bioethicists began exploring nusinersen’s use just after the FDA expanded its access to all SMA-1 patients. At first, concerns centered on ensuring fair patient access to the drug, uncertainty about long-term benefits, risks and who would most benefit, and ensuring transparency in sharing information with patients.
But once the FDA approved the drug for all SMA patients and Biogen and Ionis Pharmaceuticals set the price, cost became the biggest concern, especially because treatment is ongoing: Patients receive six doses in the first year — at a total cost of $750,000 — and three doses in subsequent years — for a total annual cost of $375,000.
“It’s not a cure,” she said. “But it’s a huge step, and you hate for the price tag to be the reason that a family has to be devastated all over again, as if the devastation of a diagnosis isn’t enough.”
The cost puts pressure on all stakeholders, including insurance companies and hospitals, to set criteria for SMA treatment and how broadly it should be pursued.
“If we can keep these little kids off of ventilators and able to move around, even if just to move their assistive devices without tiring out, it’s incredible,” Burgart said. If treatments for SMA continue to improve, she admits to having a “future fantasy” of watching someone diagnosed with SMA competing in the Olympics.
“I hope that is something we all witness one day,” she said.
Photo by Steve Fisch