Collaborating to Help Improve Access to Drugs for Rare Diseases

On Rare Disease Day — a day when the international community raises awareness about rare conditions and their impact on patients’ lives — CADTH is announcing new work related to drugs for rare diseases. 

In March 2023, the Government of Canada announced the National Strategy for Drugs for Rare Diseases to help increase access to, and affordability of, effective treatments for these conditions. Part of the national strategy investment includes funding for CADTH-led initiatives to improve the collection and use of evidence to inform and support decision-making. Some of these initiatives include:

• Building on existing work and developing pan-Canadian guidance to support newborn screening programs, which play an important role in the early diagnosis of rare diseases.
• Supporting efforts to improve the generation of, and access to, real-world data from rare disease–based registries, which are important sources of data for the evaluation of treatments for rare diseases.

Newborn Screening Advisory Panel

Newborn screening are tests done shortly after birth to check for rare but treatable diseases. While newborn screening programs are available in all provinces and territories, each jurisdiction has its own decision-making processes, policies, and approaches and this variation can create disparities in access to timely diagnosis and treatments, depending on the condition.

Because of the unique approaches to newborn screening across provinces and territories, there is an opportunity to provide support to these programs by convening experts from across Canada to develop guidance. CADTH has established a Newborn Screening Advisory Panel to develop guidance around various issues, such as a process to identify potential new screening conditions for consideration, screening criteria, and equity and ethical considerations. This guidance may help foster greater consistency and timelier access to treatments. A final report will be published in early 2025.

Supporting Rare Disease Registries 

Disease registries are centralized repositories that collect and retain standardized information about a group of patients who share a condition. Researchers and health care professionals can use the “real-world data” from these registries to better understand the natural history of a disease, health system use, and, potentially, the safety and effectiveness of emerging treatments. Importantly, registry design, quality, and data management practices help determine the value they can bring to decision-making.  

We are undertaking a series of activities that will help lay the foundation for improved evidence generation and access to real-world data from rare disease–based registries. Our goal is to help generate fit-for-purpose decision-grade real-world evidence to better address regulatory, health technology assessment, and payer evidence gaps throughout the drug life cycle. Our activities will include establishing an inventory of rare disease registries in Canada, establishing registry standards and guidelines, and testing existing registries for health technology assessment readiness.  

Funding Opportunity for Rare Disease Registries 

To help empower rare disease registry owners to improve the quality of their data, CADTH will be announcing a funding opportunity via a Request for Proposals (RFP). Registry holders will be invited to submit proposals to receive funding to improve the data quality and completeness of their registries.   

Assessing Products Across the Life Cycle  

As part of CADTH’s overall commitment to innovation, we follow drugs across their life cycle. Older products being used for the management of rare conditions may never be filed for review by the manufacturer. To help address these gaps in the drug reimbursement review process, we have established a new nonsponsored review process to provide public drug programs with advice in the absence of a submission from the manufacturer. Our reimbursement review of eltrombopag for severe aplastic anemia, a rare blood disorder, is an example of our ability to help address gaps for rare conditions and consider new evidence. We assessed this existing product through our nonsponsored reimbursement review pathway and the Formulary Management Expert Committee delivered a recommendation to reimburse with conditions. The committee noted the significant unmet need in the treatment of severe aplastic anemia, considering the complications associated with multiple blood transfusions and the challenges of treatment that may include allogenic hematopoietic stem cell transplant.  

Throughout the year ahead, the Formulary Management Expert Committee will deliberate on other nonsponsored reimbursement reviews of drugs for rare conditions, including everolimus and mepolizumab.  

Learn More

  For more details about our work related to drugs for rare diseases, visit our website and subscribe to our eAlerts to be notified when the RFP opens.