Panel 317 - Bridging the Gap: Timely Patient Access to Innovative Medicines in the Rare Disease and Disorder Space

Conference Day: 
Day 1 - November 13th 2019
Takeaways and recommendations: 

Bridging the Gap: Timely Patient Access to Innovative Medicines in the Rare Disease and Disorder Space

Rare diseases have a significant impact on individuals, their families and society, yet treatments are only
available for approximately 200 rare diseases. The unmet need in rare diseases is a pressing concern that must be addressed. The lack of a Canadian Rare Disease Framework means drugs for rare diseases are subject to the same review, evaluation framework and evidence requirements as other drugs. Evaluating these drugs with the current review process and recommendation framework limits decision making.

This panel explored how novel mechanisms and innovative constructs, effectively applied in other
markets, may enable Canadian regulators and health technology assessment bodies to bridge the gap;
overcoming systemic barriers and lengthy delays in patients accessing life altering drugs for rare disease.

Organized by: Hoffmann-La Roche Ltd.

Speakers: Tania Stafinski , Co-Founder and Director, Health Technology and Policy Unit in the School of Public Health at the University of Alberta; Adrian Thorogood, Lawyer and Academic Associate, Centre of Genomics and Policy (CGP), McGill University; Durhane Wong-Rieger, President & CEO, Canadian Organization for Rare Disorders, Judith Glennie, President, J.L. Glennie Consulting Inc.

Moderator: Bill Dempster, CEO, 3Sixty Public Affairs 


  1. The current process in Canada for getting therapies to rare disease and disorder patients is too lengthy.

  2. Only 30% of patients who need access to a rare disease drug or therapy can actually do so.

  3. Patients play an integral role through the entire life cycle of a therapy. Engaging patients early and often improves the quality of research and ensures drugs are delivering value to patients.

  4. Confidentiality is an issue for patients with rare diseases. Genomics and other data can make rare disease and disorder patients more identifiable, even when data are anonymized.  

  5. Our limited understanding of rare diseases makes it more challenging for health technology assessment agencies to evaluate clinical data to determine if a potential treatment is cost-effective. 

  6. Genome Canada’s proposal to establish a Canada-wide whole genome sequencing program for rare disease patients could improve diagnostic rates. 

  7. We can learn much about accessing drugs for rare diseases (DRDs) from the example of the Canadian Fabry Disease Initiative

  8. Quebec revised its review processes in 2018, to align with Quebec’s renewed Strategie Quebecoise des Science de la Vie, with particular emphasis on DRDs. The revision recognized the significant challenge in generating data to demonstrate clinical value of DRDs. 

Suggested Actions:

  1. The Canadian payer determines whether patients get access to the products, so demonstrating a drug’s value to them is critical. In the rare disease space, value beyond the pill in the rare disease space needs to be redefined. Most rare diseases are genetic in nature; if we solve the genetic challenges we will find solutions for some of the more common ones.

  2. The lack of a Canadian Rare Disease Framework subjects drugs for rare diseases to the same review and evaluation framework and evidence requirements as other drugs, where submissions tend to be more complete, to demonstrate clinical benefit and cost effectiveness of that drug. Subjecting DRDs to the same review process and recommendation framework limits decision making, as the process is not designed with the consideration of data limitations associated with clinical trials. 

  3. We cannot study these conditions without collaborating internationally, including sharing common infrastructure to support clinical trials, surveillance and learning about early access mechanism, such as managed access agreements, that other countries have implemented.

  4. Rare diseases disproportionately affect minors. As such, children should be engaged by their physicians, their parents and researchers in decision making. 

  5. There is an opportunity to implement a Provincial/Territorial framework that would compel agencies to articulate how they will contribute to the process and what changes they will adopt to move this process forward.

  6. The provinces and territories can learn from countries like France and Colombia, which created processes to increase efficacy in getting treatments to patients with rare diseases and disorders. Europe has implemented e-consent, which ensures patient medication information is regularly updated online.