12/04/2012 04:00 EST | Updated 02/02/2013 05:12 EST

Kalydeco, Cystic Fibrosis Drug, A Paradigm Shift In Treating Disease; But High Cost 'An Issue'

TORONTO - It's been a long road. But some cystic fibrosis patients in Canada may be on the verge of reaping the benefits of a gene discovery made in Toronto in 1989.

The first drug to address a genetic mutation that causes CF in some patients has been approved for sale by Health Canada, the drug's manufacturer, Vertex Pharmaceuticals, announced Monday. The drug will be marketed under the name Kalydeco; its generic name is ivacaftor.

The news is being hailed as a major step forward by advocates for CF patients. But even those celebrating know getting the enormously expensive drug into the hands of the people who need it is a hurdle that remains to be cleared.

"Price is an issue," admits Ken Chan, vice-president for advocacy, research and health care for Cystic Fibrosis Canada.

Vertex says the drug will sell in Canada for about the same price as has been set for the U.S. and U.K. markets, where the drug was introduced earlier this year. That price: roughly US$300,000 a year.

"This is not the price that patients will pay. We are working with federal, provincial and territorial governments and private health insurers to make Kalydeco available to all eligible Canadians," Megan Goulart, Vertex's senior manager for CF product communications, said via email.

"This process is underway and is a part of determining what insurers will pay."

Cystic Fibrosis Canada — whose sister organization in the U.S. helped to fund the development of the drug — is supporting the company's application to the Common Drug Review, hoping that body will recommend that provinces add Kalydeco to their drug formularies. The Common Drug Review does cost-benefit analyses for all provincial drug formularies, except that of Quebec.

Kalydeco is only a treatment option for between three or four per cent of the roughly 4,000 Canadians who have cystic fibrosis. That's because it addresses the disease process triggered by a mutation that causes that percentage of CF cases, the G551D mutation.

CF is a genetic disease most commonly found in Northern Europe and countries with high levels of people of Northern European descent, such as the United States, Australia and Canada. There are about 70,000 CF sufferers worldwide.

Faulty coding in a single gene — which was discovered in 1989 by researchers at Toronto's Hospital for Sick Children — leads to a disease where thick mucus is created in the lungs.

That mucus makes the lungs of CF patients vulnerable to frequent infections. CF patients must typically spend between two and six hours a day undergoing physiotherapy and inhaling nebulized antibiotics and other drugs to try to maintain good lung function.

While the life expectancy of CF patients has improved dramatically, the disease shortens lives. The median age of a CF patient in Canada is now about 48 years old. But half of the people in Canada who died from the disease last year were under the age of 26, says Dr. Elizabeth Tullis, director of the adult CF clinic at Toronto's St. Michael's Hospital.

Tullis, who was involved in the testing done to bring Kalydeco to market, says the drug is a paradigm shift for treatment of CF. To date medical options have dealt with the consequences of mucus build up. This drug addresses the cellular level problem that creates the mucus in the first place.

A study of the drug published last fall in the New England Journal of Medicine showed patients on the drug had significantly better lung function, fewer infections and were able to gain weight — a problem with this disease — when compared to people taking a placebo.

And the improvements were seen in even in older patients, whose lungs have accumulated years of damage from the disease, says Tullis, who has served as a consultant and a paid adviser for Vertex.

Tullis runs North America's largest CF clinic. She has five patients who were in the trial and who now have been on the drug for two years. "What they've been able to do since having the drug is truly remarkable," she says.

She says it's hoped that sustained use of the drug will lessen the amount of daily therapy people with CF must undergo, though whether that will be the case isn't currently known.

And Tullis says the introduction of a medication that addresses the disease process, not the downstream affects of the disease, offers people with CF and their doctors hope that similar drugs will be developed that can be used by the majority of CF patients.

Note to readers: This is a corrected story. An earlier version used the former name for the organization Cystic Fibrosis Canada.