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Alex Chiabai and his mother Debra decorates a cake for a school bake sale Feb. 16, 2017 in Ottawa. Alex, who has Duchenne muscular dystrophy, takes a drug called deflazacort to treat his symptoms.Dave Chan

Alex Chiabai has been living with the effects of Duchenne muscular dystrophy (DMD), a genetic disease that weakens and eventually destroys muscles, for most of his young life. The 16-year-old now relies on a wheelchair to get around, but he still has good upper-body strength, something his mother attributes in part to deflazacort, a steroid that helps keep some of the disease's nefarious symptoms in check.

Deflazacort, a decades-old generic drug, is one of the front-line treatments for DMD and patients across the country depend on it to slow the progressive muscle weakening, as well as to help keep their lungs and hearts strong, and weight down, which are some of the other difficult symptoms of the disease. Despite this, deflazacort hasn't been approved in Canada to treat DMD or any other medical condition. Patients must apply to Health Canada's Special Access Program, which is designed to help patients with serious diseases get their hands on medications that are not available in Canada, usually through importing from other countries.

Since deflazacort isn't approved here, patients typically must pay out of pocket for them, which can be a major financial burden for some families depending on their income, child's weight (the dose is determined by body mass) and whether they have more than one child with the genetic disease. Alex's mother, Debra Chiabai, said she thinks companies don't see it as worthwhile to spend time and money getting drugs such as deflazacort approved in Canada, considering how little it costs and how few patients will take it.

"It's a very small patient population. It's just not cost-effective for the company to go through the whole approval process," she said.

Ms. Chiabai said her family is fortunate because they can afford to pay the out-of-pocket costs for deflazacort. But many other families can't and some have to do without the medication as a result, she said, which can have a detrimental impact on DMD patients. "It sometimes comes down to a choice between food and drugs," she said.

But Canadians with DMD learned this month that the U.S. Food and Drug Administration has approved deflazacort to treat DMD, which some took as a sign the company manufacturing the drug, Marathon Pharmaceuticals, would also try to get it approved here, which would make the drug eligible for coverage under public and private drug plans. Muscular Dystrophy Canada said in a press release the FDA approval is "encouraging and raises hopes that Canadian children may also have access to this medication in the near future."

So far, no company has applied to bring deflazacort to market here. In an e-mail, a spokesperson for Marathon said there are no plans to seek approval in Canada as "the U.S. is our main market."

But the case highlights continuing problems faced by patients in Canada, which doesn't have a formal rare-disease drug policy or framework, meaning patients are often forced to contend with red tape and high out-of-pocket costs.

"We're the only developed country that doesn't have an orphan-drug framework," said Dr. Durhane Wong-Rieger, president and chief executive officer of the Canadian Organization for Rare Disorders. "This is really a challenge."

Many were surprised to learn Marathon Pharmaceuticals planned to charge $89,000 (U.S.) a year for the drug, despite the fact that deflazacort currently costs a few hundred dollars a year to import from other countries. For instance, Debra Chiabai estimates her family pays roughly $300 a year under Health Canada's Special Access Program. News of the massive price hike set off a major controversy, with U.S. Senator Bernie Sanders and Representative Elijah Cummings sending a critical letter to Marathon.

The company has since backed down and said it is "temporarily pausing" the launch of deflazacort. Dr. Hugh McMillan, a clinical investigator at the Children's Hospital of Eastern Ontario Research Institute and member of the scientific advisory committee of Muscular Dystrophy Canada, said the deflazacort price hike is a result of the U.S. regulatory system for rare-disease or "orphan" drugs and would not likely happen here.

The FDA allows companies to exclusively market new orphan drugs for seven years as a way to encourage research and development of treatments for rare conditions, and some companies may be using the rule to bring older generic drugs to market through the back door, McMillan said.

Rare diseases, also called orphan diseases, are those that only affect a small number of people. In Europe, rare diseases are defined as those that affect fewer than one in 2,000 people. The small number of patients poses unique challenges when it comes to drug availability and pricing. For instance, companies may not try to go through the time-consuming, costly process of getting drugs approved in Canada if only a few patients will ever use the drugs.

In recent years, more drug companies have been focused on developing innovative drugs to treat rare diseases, but the price tags are often so high that drug plans may refuse to cover the cost. One of the most notorious examples of this is Soliris, a drug used to treat two rare blood diseases that can cost more than half a million dollars a year. Ottawa's Patented Medicine Prices Review Board is in the midst of a hearing into the alleged excessive pricing of Soliris.

The continuing challenges with rare-disease drugs have Wong-Rieger and others pushing federal and provincial governments to adopt a strategy to help patients navigate the system and get the medication they need. She said she's been involved in discussions with Health Canada for years to adopt rare-disease policies, and while some progress has been made, many problems remain.

For instance, she said, Health Canada has been making it easier for companies to bring older generic treatments for rare diseases into Canada by relaxing some of the usual requirements for large randomized controlled trials. Because rare-disease populations are typically small, it can be difficult for companies to do such trials, Wong-Rieger said. But Canada still doesn't have a formal definition of what a rare disease is and patients are left to navigate a confusing system.

"I do think we are lagging a little bit behind in Canada with a rare-disease strategy on a federal-provincial level," said Dr. Ronald Cohn, pediatrician-in-chief at Toronto's Hospital for Sick Children. "If you end up having to pay out of pocket, it's a huge financial burden."

Health Canada's website says the department is in the process of developing an orphan-drug regulatory framework "that seeks to encourage the development of orphan drugs … and increase the availability of these products on the Canadian market," but no other information is available on timing. Federal Health Minister Jane Philpott's office did not provide information about the status of a rare-disease framework in Canada.

But even when drugs have been approved for use in Canada, it can be hard for people with rare diseases to get their hands on them. For instance, people with Prader-Willi syndrome – a genetic disease characterized by weak muscle tone, abnormal growth, developmental issues and other problems – can benefit from taking growth-hormone therapy. But because growth hormones aren't specifically approved to treat Prader-Willi, many families have to pay for the drugs themselves, as private and public plans often won't cover those costs.

Holly Sine's three-year-old son has Prader-Willi syndrome and because his growth-hormone levels were so low, he was able to qualify for funding under Ontario's drug benefit plan. But many other families have to pay thousands of dollars a year in out-of-pocket costs because their children's hormone levels didn't meet the provincial cut-off, something that seems inherently unfair, Sine said. Children that don't qualify for funding may still get access to the therapy through a doctor, but may face steep costs depending on whether they have private insurance and if their plan will cover the cost, she said.

Chiabai said she wants the obstacles removed so that it's easier to get her son the best treatment he needs. Deflazacort is just one of the drugs that can help treat Duchenne muscular dystrophy.

But each time a new treatment is developed, there's no telling whether it will make it into the hands of patients, she said, which is why there needs to be a separate strategy for orphan drugs.

"It makes logical sense for me that there needs to be two separate processes," she said.