Rare Disease
Innovative Pathways to Improving Access to Treatments for Rare Diseases
Innovative patient support programs and data-driven solutions are improving access to life-saving rare disease therapies in Canada.
Niki Bellefontaine
Patients with rare diseases face significant barriers in accessing innovative therapies. High drug costs and challenges in conducting research with smaller patient populations hinder development and timely access. Limited clinical data also complicates evaluations by health technology agencies (HTAs), adding uncertainty to the economic valuation of treatments.
Many Canadians with rare diseases rely on treatments that are not approved by Health Canada through Health Canada’s Special Access Program (SAP). Bayshore Specialty Rx works with manufacturers and specialist clinicians to leverage the national network of pharmacy and nursing support services to support SAP rare disease patients.
Supporting rare disease patients
Manufacturer-supported patient support programs (PSPs) like those provided through Bayshore Specialty Rx represent another critical pathway for rare disease patients to access medications that are approved by Health Canada but not yet funded through drug programs. Bayshore-supported PSPs assist manufacturers in gathering data to support value and
outcomes-based submissions, which are increasingly being accepted by HTAs due to limitations in clinical data.
Bayshore implementation teams collaborate with manufacturers to identify evidence gaps and design PSPs that capture high-quality data for future submissions to private and public drug plans. Outcome measures, such as quality of life, are collected through omnichannel solutions at key treatment touchpoints to support payer negotiations. Advanced technology like MyBayshoreCares, Gateway, and Alida enables reliable data collection. Real-world evidence, coupled with advanced analytics and linkage with external economic utilization measures, provides powerful tools to inform manufacturers’ strategies and support reimbursement decisions.
2025: Canada Still Only Developed Country with No Rare Disease Plan
To truly help rare disease patients, Canada must turn promises into action and funding.
IDurhane Wong-Rieger, PhD
President & CEO, Canadian Organization for Rare Disorders
n 2015, the Canadian Organization for Rare Disorders (CORD) presented to the federal government a National Rare Disease Strategy. In March 2023, the federal government announced $1.5 billion over three years for a Rare Disease Drug Strategy, with $1.4 billion in provincial/territorial agreements. Provinces need to cover only one drug from a “common list” of 12 drugs in the first two years and assume 10 per cent of funding by year three. However, monies saved from provincial budgets need not be redirected to other rare disease services. The $1.4 billion will result in almost no net benefit for persons living with rare disease, unless governments take a different course of action now.
Healthcare professionals are planning to coordinate care under the Canadian Rare Disease Network; the patient community, led by CORD, is engaged in research, clinical trials, registries, and evidence development; and advances in genetics and digital technology are creating unprecedented opportunities.
The time is now for Canada to catch up with and surpass the world with national, provincial, and local programs for rare disorders. As we approach another election, 2025 is critical. It will be much worse if we squander the $1.4 billion and fail to invest in comprehensive rare disease plans focused on improving Canadians' lives.
STRENGTHENING CANADA’S RARE DISEASE STRATEGY: A Call for Action
Changes are needed to Canada’s national rare disease strategy to improve timely access to innovative medicines.
Dr. Bettina Hamelin
Over the past two years, Canada has made some progress in addressing the needs of the 1 in 12 Canadians living with a rare disease. The announcement of the National Strategy for Drugs for Rare Diseases in March 2023, coupled with a $1.5-billion investment, marked a significant first step, although it has taken nearly two years for British Columbia, Alberta, Saskatchewan, Ontario, Newfoundland and Labrador, and New Brunswick to sign bilateral agreements with the federal government. Encouragingly, organizations funded by the federal government, such as Canada’s Drug Agency, have initiated projects to address data gaps, update screening protocols, and explore uses of realworld evidence.
Ongoing access challenges
While these developments are promising, they have yet to translate into improvements in access to treatments for patients with rare diseases. The time from drug launch to public listing still takes too long, averaging two years for rare disease drugs to become available on a public plan following Health Canada approval. Additionally, the number of treatments launched in Canada continues to lag behind peer countries.
Transparency has been an issue as well. Fifty per cent of the funding under the agreements is for “common list drugs,” which were
chosen to help provinces and the federal government develop a process for using realworld evidence to evaluate rare disease drugs. Unfortunately, the list of drugs was created without input from those most affected and knowledgeable: patients, caregivers, healthcare providers, and researchers. There is no transparency in the drug selection process either, and not even drug manufacturers are informed of whether a drug is on the list until the pan-Canadian Pharmaceutical Alliance (pCPA) negotiations are complete.
Encouraging collaboration and innovation Money alone cannot address the challenges faced by patients and their families. A more comprehensive, collaborative, and expedient approach is needed to reform Canada’s regulatory and reimbursement processes. The federal government should create an accelerated pathway for medicines that meet a prevalence definition of a rare disease (e.g. no more than 1 in 2,000 people). This approach, already implemented in several international jurisdictions, would establish a more predictable, efficient process.
Under such a pathway, medicines would undergo a streamlined Health Canada regulatory review. Simultaneously, value assessments would be conducted by a committee comprised of rare disease experts, including those with lived experience. This committee would directly engage with patients, caregivers, healthcare providers, researchers, and manu-
facturers, emphasizing real-world impact over traditional pharmaco-economics, which often fail to account for the unique nature of rare disease treatments.
Addressing gaps and challenges
The federal government should work with provinces to develop a dedicated negotiation stream within the pCPA specifically for rare disease treatments. This should include agreements linked to evidence developments and innovative reimbursement models. Provinces could further accelerate access by implementing interim access mechanisms akin to models in Germany or France while pCPA negotiations are underway. Innovative Medicines Canada members have proposed a Canadian version of such a model to provincial governments. These additional elements would help ensure that patients and families can access the care they need. They would also position Canada as a more attractive place for launching innovative treatments, benefiting patients and strengthening the country’s healthcare and life sciences ecosystems.
Canada’s innovative pharmaceutical industry is ready to collaborate with governments, patients, providers, and researchers to improve access to medicines for rare diseases. By working together, we can achieve meaningful change and deliver tangible benefits for patients with rare diseases and their loved ones. The time to act is now.
