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Durhane Wong-Rieger, president & CEO Canadian Organization for Rare Disorders poses in Montreal, Quebec, October 20, 2021.Christinne Muschi/The Globe and Mail

After finding out her private health insurer would no longer pay for a drug helping with her cystic fibrosis, Lilia Zaharieva decided to sell everything she owned to stay on the medication.

“But the drug cost more than $250,000 a year and a friend told me, ‘You own two boxes of books and you don’t even have a car,” recalls Ms. Zaharieva, who was diagnosed with cystic fibrosis at age 2. It’s a rare genetic disease that damages the lungs and digestive system, making it extremely difficult to breathe and function day-to-day. “So even if I did sell everything, it still wouldn’t have been enough.”

Money from fundraising helped ensure she didn’t miss a dose and the pharmaceutical company subsequently stepped up to offer her long-term supply under a compassionate program. But, while she was relieved and grateful, Ms. Zaharieva also felt guilty because she knew so many of the 4,300 Canadians with cystic fibrosis could not get access to the medication.

“Another woman I know was forced to go off the drug and ended up in intensive care,” she says. “She was very sick; she almost died.”

Improving access to high-cost drugs

This disparity in access to treatment is a critical issue that the federal government is looking to address in a national strategy for drugs targeting diseases that affect small numbers of people, from a few individuals to a few thousand. The strategy would be backed by a $1-billion proposed investment over two years, starting next year with up to $500-million per year.

Health Canada hosted five town halls between January and March this year to get Canadians’ input on three key questions: how to improve access to high-cost drugs for rare diseases, how to ensure funding decisions for these drugs are based on the best available evidence, and how to fund these drugs without threatening the sustainability of the Canadian health care system.

With more and more high-cost drugs for rare diseases coming down the pipeline – thanks to factors such as changes in orphan drug legislation, tax incentives, expedited regulatory reviews and reduced or waived drug application fees – the country needs a national strategy urgently, says Durhane Wong-Rieger, chief executive officer of the Canadian Or-ganization for Rare Disorders and the mother of two children with a rare disease.

“There are lots of new drugs coming in that are amazing and transformative,” she says. “So we have to look down the road and figure out if there is a way we can provide access to these drugs in a way that is systematic and equitable, as opposed to the way we’re doing it now.”

The status quo makes it extremely difficult for the roughly three million Canadians with rare diseases to manage and survive with their condition, Ms. Wong-Rieger says. While there are treatments today for about 10 per cent of the estimated 7,000 rare diseases in Canada, the price tags for these drugs – which range from $100,000 to more than $2-million per patient per year – make it impossible for most patients to pay out-of-pocket.

That makes them dependent largely on coverage by a provincial or territorial health plan or by a private insurer, or on the availability of patient-support programs sponsored by pharmaceutical companies.

For drugs still in development or are not yet approved for sale in Canada, patients could apply for special access through Health Canada or sign up for clinical trials. The latter does not guarantee patients will get the actual drug being studied, notes Cheryl Rockman- Greenberg, a clinician scientist focused on rare genetic disorders at the Children’s Hospital Research Institute of Manitoba.

“They could be on a placebo,” Dr. Rockman-Greenberg says. “People understand when they’re taking part in a clinical trial that there may be no direct benefit to them, either because they’re part of a control group or because the drug just isn’t working for them. Often, it’s such a disappointment.”

Delivering treatment to patients with rare diseases goes beyond simply making the latest drugs available through a health plan, special access program or clinical trial, Dr. Rockman-Greenberg says.

Building evidence to gauge how well these drugs work, or don’t work, should be part of a national strategy. That’s not so easy to do. Unlike medications for diseases that affect large groups, rare diseases are typically studied in much smaller groups. Clinical trials for these drugs tend not to be double-blind, where neither patients nor their doctors know if what’s being administered is the experimental drug, a placebo or a standard treatment, with the latter usually non-existent for rare diseases.

“That leaves a lot of questions about the effectiveness of the drug,” Dr. Rockman-Greenberg says. “So we need to really fill in the gaps and the best way to do that is for rare disease patients to be their own control group. They have to commit to close follow-up, to cooperate with their doctors and study investigators, and to understand that if they don’t respond to the treatment within a certain time, we stop.”

Drug manufacturers typically set up registries to collect information on how patients respond to treatment, notes Sandra Sirrs, a clinical professor of endocrinology and metabolism at the University of British Columbia. “But the problem with these manufacturer-funded registries is that many countries, Canada included, have no infrastructure and no approach to review the data and use it to authorize or withdraw a drug from the market,” Dr. Sirrs says. “This is a huge problem because we need to know if the drug works post-market entry.”

Ms. Wong-Rieger points to a need for a national body, such as a rare disease drug agency, that can coordinate patient data collection, preferably in a centralized registry with standardized guidelines for all users. “The idea would be one set of criteria so we can get standardized data from the different groups out there that are enrolled in the same registry,” she says.

Early access to medication is critical

Craig Campbell, head of pediatric neurology at Children’s Hospital – London Health Sciences Centre in London, Ont., says giving rare disease patients early access to medication is vital, but regulatory approvals for these drugs are often held up because clinical trials fail to produce results that meet traditionally defined benchmarks.

“We often rely on very traditional ways to analyze evidence, for example, by looking at a single defined primary outcome reaching a certain statistical significance,” Dr. Campbell says. “But with rare disease, we’ve seen a drug that didn’t hit the mark in the first clinical trial go back for a second trial with enriched criteria, then not hit the criteria again and go back for a third trial.”

But what if, instead of going to a third trial, investigators had instead combined the two trials to show statistically significant results? “So instead of losing 10 years, we could get the drug to people years and years earlier,” Dr. Campbell says.

For Ms. Zaharieva, a national rare disease drug strategy can’t come soon enough. While she’s now on a new and better medication that received Health Canada approval earlier this year, she remains concerned about future access to the drugs she needs. “Health Canada can approve these drugs but then they can go through provincial processes and end up being denied,” she says. “I would like to see cohesion between provinces and the federal government in a national strategy that puts patients first.”

On Nov. 30, The Globe and Mail hosted a virtual event called Regenerative medicine: Where will stem cells take us? Presented by Bayer, the webinar explored the way researchers are working on stem cell advances that could change the future of medicine. Read more here.

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