Takeda Releases Report on the Importance of Defining Rare Disease in Canada

The majority of Canada’s G20 peers have adopted a definition of a rare disease as one where fewer than 1 patient per 2,000 people are affected

TORONTO, Ontario, October 17, 2022 – Today, Takeda Canada Inc (“Takeda”) released its Defining Rare Disease in Canada: Lessons from G20 Nations report. The report highlights the need to develop a single, pan-Canadian definition of a rare disease to help accelerate and support the launch of Canada’s Rare Disease strategy.

As Canada takes meaningful steps toward developing a national strategy for rare diseases, it remains one of a few G20 nations lacking a public and consistent definition of rare disease.

“Takeda applauds the Government of Canada’s commitments to developing a national rare disease strategy to support patients and families living with a rare diseases,” says Rute Fernandes, General Manager, Canada. “Takeda is proud to distribute this report as a meaningful resource to support policy discussions and as a foundation to launch a Canadian Rare Disease Strategy. The need for a clear definition will enable focus on the necessary infrastructure required to improve time to diagnosis, time to access treatment and patient care.”

To better understand the global rare disease definitional landscape, Takeda analyzed the different approaches taken by other G20 countries – and came to four important conclusions:

Defining what is a rare disease, is a critical early step in formulating policies and funding frameworks for patients with a rare disease.
The majority of Canada’s G20 peers have adopted a reasonably simple, quantitative definition: fewer than 1 patient per 2,000 people. Other approaches involve qualitative definitions built around criteria like “medical need” and prescriptive definitions that call out designated diseases or disease groups.
With quantitative-only definitions susceptible to becoming blunt, rigid, or static, some countries have adopted blended definitions that combine quantitative and qualitative elements.
Canada has lessons to learn from every jurisdiction reviewed can benefit from studying the approach taken by the European Union (E.U.). By marrying a prevalence threshold with a set of adaptable guidelines, the E.U. relies on a global quantitative norm, but offers policymakers a set of measures designed to instill flexibility and nuance into complex and dynamic deliberations.

“It is very important that Canadian decision and policy makers are guided by consistency in the designation of rare disease, recognizing the challenges due to rarity of a condition which may also be severe, progressive, and life-threatened, and lacking understanding, limited research, and few or no effective treatments,” says Durhane Wong-Rieger, President & CEO at Canadian Organization for Rare Disorders (CORD).

The Defining Rare Disease in Canada: Lessons from G20 Nations report is part of Takeda’s longstanding commitment to support rare disease policy in Canada. In 2021, Takeda released Strategies for Rare Diseases: International Landscape Report which assessed and summarized best practices on how different countries have developed their own tailored approaches to expediting and expanding access to new treatments for rare diseases.

To view the Rare Disease Definition Report, click here.

Rare Disease Impact in Canada

A “rare” disease is any disease that affects a very small number of individuals. It is often genetic, chronic throughout a patient’s life and life-threatening.ⁱ With rare diseases affecting a relatively small set of patients, innovative treatments are often unavailable. It’s estimated only 5% of rare diseases have an approved treatment.^{ii, iii} This reality has a distressing effect on patients and their families: studies suggest that at least 50% of rare diseases affect children, 30% of whom die before their fifth birthday.^{iv, v, vi}

The journey toward appropriately managing a rare disease is long and challenging. On average, it takes 6-8 years before a patient receives a correct diagnosis; in this time, a patient will see an average of eight physicians and receive two to three misdiagnoses.^vii The treatment delays caused by these diagnostic challenges often result in avoidable disease progression, which only amplifies the effect of the diseases on the patient and their caregivers.^viii

About Takeda Canada Inc.

Takeda Canada Inc. is the Canadian organization of Takeda Pharmaceutical Company Limited (TSE: 4502/NYSE: TAK), a global, values-based, R&D-driven biopharmaceutical leader headquartered in Japan, committed to discovering and delivering life-transforming treatments, guided by our commitment to patients, our people and the planet. Takeda focuses its R&D efforts on four therapeutic areas: Oncology, Rare Genetics and Hematology, Neuroscience, and Gastroenterology (GI). We also make targeted R&D investments in Plasma-Derived Therapies and Vaccines. We are focusing on developing highly innovative medicines that contribute to making a difference in people’s lives by advancing the frontier of new treatment options and leveraging our enhanced collaborative R&D engine and capabilities to create a robust, modality-diverse pipeline. Our employees are committed to improving quality of life for patients and to working with our partners in health care in approximately 80 countries and regions. For more information, visit: takeda.com/en-ca

Media Contacts:

Amanda Jacobs
[email protected]
+1 647-798-2231

ⁱ Critical Care Services Ontario. RARE DISEASES WORKING GROUP REPORT. March 10, 2017. [Cited 2022 Apr 6]. Available from: RARE DISEASES WORKING GROUP REPORT (gov.on.ca)
ⁱⁱ National Organization for Rare Disorders. Rare Disease Day. Frequently Asked Questions. [Cited 2022 Apr 6] Available from: https://rarediseases.org/wp-content/uploads/2019/01/RDD-FAQ-2019.pdf
ⁱⁱⁱ Clarke, S., Ellis, M. & Brownrigg, J. The impact of rarity in NICE’s health technology appraisals. Orphanet J Rare Dis 16, 218 (2021). [Cited 2022 Apr 6]. Available from: https://doi.org/10.1186/s13023-021-01845-x
^iv EDITORIAL. Spotlight on rare diseases. The Lancet Diabetes & Endocrinology. | VOLUME 7, ISSUE 2, P75, FEBRUARY 01, 2019.. DOI:https://doi.org/10.1016/S2213-8587(19)30006-3
^v Batshaw ML, Groft SC, Krischer JP. Research into rare diseases of childhood. JAMA. 2014;311(17):1729-1730. Available from: 10.1001/jama.2013.285873
^vi The United Kingdom Department of Health & Social Welfare. The UK Rare Diseases Framework. January 9, 2021. [Cited 2022 Apr 6]. Available from: https://apcp.csp.org.uk/news/2021-07-29-uk-rare-diseases-framework
^vii Shire. Rare Disease Impact Report: Insights from patients and the medical community. April 2013. [Cited Apr 6]. Available from: https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf
^viii Sawyer SL et al.. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. [Cited 2022 Apr 6] Available from : https://pubmed.ncbi.nlm.nih.gov/26283276/