The discourse around funding of Brineura for a terminally ill 10-year-old in Langford brought the term “expensive drugs for rare diseases” (EDRD) into the spotlight, and experts say the case highlights a broken system in Canada and worldwide.

EDRDs, as the name implies, are drugs for diseases that affect a small number of people, and cost more than $100,000 per year.

In Canada, the number of approved EDRDs has spiked over a 10-year period, as has their share of the pharmaceutical market.

In 2012, there were 26 EDRDs approved, accounting for 1.7 per cent of the market share.

This increased in 2022 to 139 approved EDRDs, making up 13.4 per cent of the market share.

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Experts on the matter say this highlights ongoing issues with this sector of the pharmaceutical industry.

“EDRDs are a very serious problem impacting healthcare systems everywhere in the world,” said Dr. Sandra Sirrs, a specialist in rare genetic disorders affecting metabolism, and former medical lead for rare diseases for the Provincial Health Services Authority. 

“It’s not just me saying this, all countries are saying it, and that’s because there’s literally been an explosion of expensive drugs for rare diseases that is outpacing the development of drugs for common diseases.”

Sirrs recently resigned from the province’s EDRD panel after the minister of health stepped in to reverse a decision made by the panel.

READ MORE FROM THE TIMES COLONIST: Drug-panel member who resigned laments ‘political interference’ in handling of Langford girl’s case

Sirrs says the current system incentivizes pharmaceutical companies to come up with drugs to treat or manage rare diseases.

“This all started back in the 80s when the United States developed something which is called Orphan Legislation,” Sirrs said. 

“So they refer to an orphan drug as a drug that is being developed for a condition that otherwise would not be financially viable because the disease is so rare and the intent of this legislation was to stimulate development of drugs for rare diseases through a variety of tax incentives, longer patent lives.”

However, Sirrs said there have been unintended consequences to this.

“It allowed drug companies to bring drugs to market with a sort of lower standard of evidence, smaller clinical trials, et cetera. And so that all sounds really good, until you realize the loopholes around that,” she said. 

“So number one, drugs are being brought to the market with very low quality evidence, and then once on the market, they may not work very well. Number two, the extended patent period actually discourages involvement of competitors, so there is no market forces that are working on this.”

As a result, Sirrs says EDRDs is the biggest growth sector for pharmaceutical companies.

“It’s estimated that the profitability of a rare disease drug is about double the profitability of a common disease drug, and that’s because A), the prices are high and B), the development costs are actually lower for a rare disease drug than they are for a common disease drug,” she said.

Dr. Joel Lexchin, professor emeritus in the Faculty of Health at York University, says these facts are something that pharmaceutical companies should be challenged on.

“Nobody, and that includes B.C., is asking the drug companies why it costs so much money for these products. The average clinical trial runs about 3,000 to 5,000 patients, which makes it reasonably expensive,” Lexchin said. 

“Clinical trials for drugs for rare diseases, may have 20 people, 50, 100. They’re not going to be nearly as expensive as the 3,000 to 5,000 person trial. So why are the drug companies charging tens of thousands, hundreds of thousands of dollars per year for these products? We should start by asking that question.”

Lower costs and higher selling price incentivizes drug manufacturing

Sirrs also says this creates an incentive for companies to “create” rare diseases so they can charge more for drugs.

“What they do is they take a common disease, like, for example, breast cancer, and take a sub, sub subset of breast cancer patients, and we call this salami slicing, and then say, ‘Oh, this is a rare type of breast cancer, and therefore we should charge the big money,’” Sirrs said.

This is also reflected in the breakdown of EDRDs approved, where 8.8 per cent of the 13.4 per cent total spent in 2022 was spent on oncology drugs, with the remaining 4.6 per cent being spent on non-oncology drugs.

Lexchin says this issue is why things like B.C.’s EDRD panel are important.

“The government isn’t supposed to make the decisions, people with financial links to the drug companies aren’t supposed to make these decisions,” he said. 

“These decisions are supposed to be made by people who are independent.”

And Lexchin stresses that the panel making the decisions must be independent, and government stepping in the way it did puts the whole process at risk.

“If you set up an independent panel to make independent decisions, and then those decisions are going to be overturned, basically on political grounds or because it’s bad publicity for the government, then what’s the point of the panel sitting in the first place?” Lexchin asks.

Ultimately, this is what led Sirrs to resign.

“To have a scenario where the recommendation was made not to treat and have that overturned, then I think justifiably that many of the physicians, including myself, would think, ‘well, how could we possibly recommend then in future, that other patients not be treated,’” Sirrs said.

She notes that the EDRD process looks at a wide variety of issues, including if the drug is effective to treat or manage the disease, what other physicians treating the same illness say has and has not been effective, and that it is consistent with how common diseases are treated.

“There has to at least be some measurable value,” she said.

Another factor that must be considered is the risk of side effects and the risks associated with administering the drug.

“For example, every time you inject into the brain, there’s a risk of infection. Those infections can be fatal,” she said. 

“Now, of course, everybody involved in the care of these patients will be doing the best possible quality medicine to prevent that. But the thing is that repeatedly injecting something into a brain every two weeks, that risk is there. And in the clinical trials, a significant percentage of the patients actually did have an infection related to those injections.”

Brineura, for example, is a medication that is injected into the patient’s brain.

How much has the Brineura manufacturer earned compared to costs?

Brineura’s manufacturer BioMarin reports in its annual reports that it spent USD $234.7 million in research and development between 2011 to 2017 for the drug.

Since it launched in 2017 until Q1 in 2025, it has reported net revenues of USD $883.9 million.

This means that the company has already almost earned back four times what it spent to develop the drug.

Lexchin says questions about profit by the company should be asked of these EDRD manufacturers before the price we pay is agreed on.

“Tell the drug companies, ‘you want $100,000 a year for this drug? Well, we may be willing to pay that, but show us why that drug is costing this amount of money. Show us your how much you spent on research and development. Show us what the manufacturing costs are,’” he said. 

“‘And show us whether or not the public put any money into developing this drug,’ because the basic research for these drugs, and for most drugs, in fact, comes out of public purse. ‘So show us these numbers, and then we can make an informed decision about whether or not the drug is worth that amount of money.’”

To bring down the prices of the drugs, he also suggests working more on public manufacturing of drugs. If Canada couldn’t do it alone, find partners like the European Union, the United Kingdom and Australia to partner and do it together.

Sirrs also says that drug manufacturing in Canada would be a step towards the solution.

“Canada has very little presence in drug manufacturing, but EDRDs are actually a place to start, because the volumes required are so low,” she said.

“Also, we need to look at Canadian law around drug prices.”