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For people with the neuromuscular condition SMA, a drug called Spinraza is the only approved treatment – but it costs thousands of dollars a year, and only babies usually get covered for it. Could that be changing?

Early in the morning, before school, Jan Genge helps her teenage son Burton Goicoechea put on his ankle-foot orthoses, braces that keep his feet and ankles in the correct position. Burton, 15, suffers from a rare neuromuscular disorder for which there is only one approved drug, Spinraza.Photography by Melissa Tait/The Globe and Mail

What really scares Jan Genge now is watching her teenage son struggle to brush his own hair.

Burton has already lost so much to the rare neuromuscular disorder he was diagnosed with the week before he turned two. The 15-year-old can no longer walk or stand or turn over in bed at night.

“He can’t squeeze this,” Ms. Genge, 58, said, holding up Burton’s water bottle as she tidied her living room in Guelph, Ont. “He can’t hold the hairbrush up to his head long enough. I’m thinking, well, if we don’t act soon, where is his progression going to be leading?”

For Ms. Genge and Burton, acting soon means finding a way to afford Spinraza, the only medication approved to treat Burton’s disease, spinal muscular atrophy, or SMA. Trouble is, the drug’s sticker price amounts to $708,000 in the first year of treatment and $354,000 for every year thereafter.

Burton plays with a model airplane after school. He was diagnosed with spinal muscular atrophy when he was two years old.

Most provincial governments already cover Spinraza for babies − the population for which the evidence is strongest that Spinraza works − but not for older patients like Burton.

That could begin to change with one word from an expert committee that is taking a second look at whether the provinces should pay for Spinraza for all of the approximately 500 Canadians who have SMA, regardless of their age, as Quebec has already agreed to do.

The committee is expected to release its new recommendation as early as Friday.

“It’s a life-and-death decision. Plain and simple,” said Susi Vander Wyk, the executive director of Cure SMA Canada and the mother of Holli, a 22-year-old university student with spinal muscular atrophy.

The Spinraza situation is emblematic of the challenge that public drug plans around the world are grappling with as they evaluate new and astoundingly expensive drugs for rare diseases. The dilemma goes beyond assigning a price tag to a life, vexing as that is. It strikes at the heart of what counts as rigorous scientific evidence for a drug when the gold standard – a randomized, double-blinded, placebo-controlled clinical trial – is not always practical nor ethical.

“We’re faced with a new paradigm in assessing complex drugs for rare diseases,” said Stéphane Ahern, chair of the standing scientific committee in Quebec that evaluates drugs for reimbursement at the Institut national d’excellence en santé et en services sociaux, or INESSS. “We need to use new techniques. The randomized control trials that we’re used to are not always the right tool.”

INESSS is the organization that advises the Quebec government on whether to list new drugs. Its counterpart for the rest of the country, the Canadian Agency for Drugs and Technologies in Health, or CADTH, is the organization that is about to publish new recommendations for Spinraza in older patients. CADTH’s advice is not binding, but provincial governments rarely ignore it.

In December of 2017, when CADTH released its first report recommending that Spinraza be funded only for babies seven months or younger, the alliance that negotiates drug prices on behalf of the provinces got busy striking a confidential discount deal with Spinraza’s maker, Boston-based Biogen, that mirrored CADTH’s instructions for who should get the drug.

The deal means the real price is lower than the sticker price, but nobody will reveal by how much.

Around the same time, Quebec’s INESSS concluded that Spinraza showed “therapeutic value” for babies, but was so expensive it should not be reimbursed for anyone.

A year later, in December of 2018, INESSS changed its tune. Citing new evidence and a more forgiving approach to evaluating rare-disease drugs, INESSS concluded that all Quebec patients with spinal muscular atrophy should get Spinraza, regardless of age. Funding it for an estimated 79 patients of all ages in Quebec will cost as much as $91-million over three years, including the cost of performing the lumbar punctures required to inject the drug into patients’ spines.

What will Burton do if CADTH doesn’t follow suit? He didn’t miss a beat: “I’ll move to Quebec.”

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At an appointment at Holland Bloorview Kids Rehabilitation Hospital, Burton is steadied as he balances to sit up with his own strength. This is the first time he's sat up on his own since surgery nine months ago to fuse his spine.

During the session, Burton grimaces as he tries to move his body over to the side.

He and his mother have pinned so much hope on Spinraza that, when Burton needed major spinal-fusion surgery last year to correct a deep curve in his backbone, Ms. Genge sought out a surgeon in London, Ont., who was willing to leave a small space between his vertebrae for Spinraza injections.

Like most people with SMA, Burton is missing both copies of a gene called SMN1.

When functioning properly, SMN1 instructs all the cells in the body to make survival motor neuron, a protein essential for nurturing specialized nerve cells in the spinal cord called motor neurons. Motor neurons, in turn, transmit signals telling the muscles to move. If survival motor neuron protein is in short supply, the whole process works poorly or not at all.

Spinraza tries to fix the problem by modifying the early instructional manual for a nearby gene called SMN2. Left to its own devices, SMN2 mostly produces a useless version of the critical protein. With Spinraza’s help, it produces more of the right kind.

In two major randomized control trials, Spinraza worked so well that researchers decided they could not in good conscience keep performing a sham spinal injection on patients in the placebo groups. They stopped the trials at the halfway mark and gave everyone in the trials Spinraza.

The catch, however, is that the halted trials involved infants in one case, and children ages two to 12 in the other. For adults and adolescents, there are other kinds of evidence that Spinraza helps them to regain muscle strength, or at least stop deteriorating, but that evidence mainly comes from open-label studies or real-world evidence, where Spinraza patients are monitored and their progress compared with the natural course of untreated SMA.

That kind of evidence is considered less reliable than the gold-standard clinical trials that CADTH prefers.

Ms. Genge holds Burton's hands as he sits in his powered wheelchair.

As Ms. Genge awaited CADTH’s verdict, she tried not to feel depressed at the thought of her son being denied treatment for his disease.

“He’s way more even keel in his emotions than me," she said.

Burton is not just a steady kid, he’s also smart, especially in math and science. And he showed off a wicked sense of humour as he raced a remote-control car around his house and played cards with a Globe and Mail reporter and photographer, joking at one point that his motorized wheelchair was a ticket to the front of the line at Disney Land.

Nonetheless, he feels isolated at school, twice looking away shyly and muttering, “I don’t really have any friends there.”

“It breaks my heart sometimes,” Ms. Genge said. "He’s said things. ‘I wish I could be like everybody else. I wish I could get up and walk.’ To be honest, I sometimes don’t know what to say.”

In photos: A day with SMA

Burton isn't able to stand or turn over in bed under his own strength. This morning, his mother helps him into a sling to get out of bed and into a powered wheelchair.

Before school, he uses a cough assist machine. Coughing is difficult because his intercostal muscles, the muscles between the ribs that facilitate breathing, are so weak. The machine increases and decreases air pressure to help expand his lungs and clear the airways.

In class, Burton pulls up his wheelchair to a modified desk. He uses his phone to do some schoolwork, and an education assistant is available to help him with typing.

In the winter, Burton visits the rink outside Guelph's City Hall to drift on the ice in his wheelchair.Melissa Tait/The Globe and Mail

Ms. Genge takes her son for a haircut. At home, he's unable to hold his hand to his head long enough to brush his own hair, Ms. Genge says.

After school, Burton usually "offloads" from his wheelchair and watches TV on his phone or plays video games.

Burton's lack of motor neurons weakens his muscles and causes some parts of his body to compensate. His ankles, for instance, are pronated, meaning the foot is turned and the arches flattened.

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