Cystic Fibrosis is a rare, genetic pulmonary disorder characterised by excessive sweat, thick mucus secretions which results in multisystem disease, chronic infections of the lungs, short stature, and digestion problems (Castellani et al., 2018). Cystic Fibrosis requires clinical syndrome testing as is often confirmed through protein dysfunction tests or the identification of gene mutations (Castellani et al., 2018). This condition greatly impacts the quality of life of patients and can have a significant impact on their prognosis. For patients with Cystic Fibrosis, inaccess to treatment can lead to lung disease which is the main driver of morbidity and mortality in this population (Castellani et al., 2018). As such, developing a treatment for this patient population became a priority for pharmaceutical companies,
Kalydeco, developed by Vertex Pharmaceuticals, was first approved by Health Canada in 2012 as the first treatment that addressed the underlying genetic mutations in some patients with Cystic Fibrosis. It was widely termed as the ‘life-saving wonder drug’ (Rachul et al., 2016). The approval of Kalydeco in Canada marked a significant advancement for patients with Cystic Fibrosis. Importantly, however, in 2012, Kalydeco was one of the most expensive drugs on the market, priced at approximately $300,000 per patient per year (Rachul et al., 2016), a cost similar to that of enzyme replacement therapies for Fabry disease discussed in earlier blog posts. The high cost of Kalydeco was particularly criticised because this drug was developed using charitable funds from the Cystic Fibrosis Foundation and relied on the results of research which was publicly funded (Rachul et al., 2016).
Yet, despite the high cost of the treatment, the portrayal of Kalydeco in the Canadian media was very positive, with a majority of news outlets advocating for the public funding of this treatment (Rachul et al., 2016). In fact, researchers have identified that very few articles at the time focused on the costs of this treatment and the budgetary limitations for funding Kalydeco (Rachul et al., 2016). As a result of the overwhelming patient interest stories and patient advocacy, the Canadian public placed a lot of pressure on governments to approve and fund this treatment (Rachul et al., 2016).
In the rare disease world, public attention has often been seen as a primary means of accessing treatments for patients with rare diseases. As one of the government representatives interviewed in our research on Fabry treatments in Canada indicated: "you don't accomplish anything by staying quiet, people do what they can do raise the profile of the issue. The more support you can generate the more pressure you are able to exert on the Minister of Health to bring this to the table.” The same need for patient advocacy for access and funding has been seen consistently throughout Canadian rare disease drug approvals.
Despite the initial excitement in the Cystic Fibrosis community surrounding the approval of Kalydeco, a significant portion of the patient population was not included in the initial approval. Nevertheless, on March 25th of this year, Health Canada granted Marketing authorisation for the expanded use of Kalydeco in patients from 4 months to 18 years of age. In a statement released by Michael Siauw, the General Manager of Vertex Pharmaceuticals Canada: “since , it’s been our goal to ensure that as many people with [Cystic Fibrosis] as possible are eligible for our treatment, and today’s announcement means that approximately 25 young people with [Cystic Fibrosis] in Canada are now newly eligible for Kalydeco”.
Yet, many rare disease patient advocates, families, and policy researchers are still concerned about the significant delay between the approval of Kalydeco in 2012 and the recent announcement that children would also be granted access to this treatment. The approval was based on an ongoing phase three study which incorporated real world evidence. Approvals such as this emphasise the importance of integrating real-world evidence into finding decisions.
Further, Cystic Fibrosis Canada has one of the strongest and longest standing patient registries in Canada (Cystic Fibrosis Canada, 2022). The national Canadian Cystic Fibrosis Registry was developed in the early 1970s with the goal of monitoring the clinical trends of the Canadian Cystic Fibrosis population (Cystic Fibrosis Canada, 2022). This registry is made possible as there are 41 accredited Cystic Fibrosis clinics in Canada, allowing for the integration of patient data across the Canadian landscape (Cystic Fibrosis Canada, 2022). The registry is currently being used by clinicians and researchers to improve knowledge of disease patterns and care practices for patients with Cystic Fibrosis (Cystic Fibrosis Canada, 2022). This registry is believed to have provided data that was significant in contributing to the expanding approval of Kalydeco for a greater patient population in Canada (Cystic Fibrosis Canada, 2022). As such, this case study highlights the value of patient registries in the Canadian drug approval context.
Nevertheless, it is important to note that many other rare disease treatments across the Canadian landscape have not experienced the same degree of success in drug approvals for their patient populations. As such, there is an evident need for increased social pharmaceutical innovation for the continuing development of treatments, pathways, and registries to ensure that more patients with rare diseases in Canada can access lifesaving treatments.
Castellani, C., Duff, A. J. A., Bell, S. C., Heijerman, H. G. M., Munch, A., Ratjen, F., Sermet-Guadelus, I., Southern, K., Barben, J., Flume, P. A., Hodkova, P., Kashirskaya, N., Kirszenbaum, M. N., Madge, S., Oxley, H., Plant, B., Schwarzenberg, S. J., Smyth, A. R., Taccetti, G., Drevinek, P. (2018). ECFS best practice guidelines: The 2018 revision. Journal of Cystic Fibrosis, 17(2), 153-178. 10.1016/j.jcf.2018.02.006
Cystic Fibrosis Canada. (2022). Cystic Fibrosis Canada. Cystic Fibrosis Canada. Retrieved April 3, 2022, from https://www.cysticfibrosis.ca/our-programs/cf-registry
Rachul, C., Toews, M., & Caulfield, T. (2016). Controversies with Kalydeco: Newspaper coverage in Canada and the United States of the Cystic Fibrosis 'wonder drug'. Journal of Cystic Fibrosis, 15(1), 624-629. 10.1016/j.jcf.2016.03.006
Photo credit: Sincerely Media (2022). Oxygen nebulizer, asthma, COPD, cystic fibrosis [Image]. Sincerely Media, Port Elizabeth. https://unsplash.com/photos/wUMNuQPrnP0
Written by: Shir Grunebaum (MA)