A commitment was made five years ago after an initial promise made 18 years ago. In February 2019, the federal government announced $1 billion to set up Canada’s Rare Disease Drug Strategy (CRDDS). In March 2023, the Canadian Organization for Rare Disorders (CORD) was proud to stand with the health minister when he announced $1.5 billion for Canada’s Rare Disease Drug Strategy with a spending plan of $1.4 billion for new treatments through provincial/territorial bilateral agreements and $100 million for federal drug plans, research, data collection, and evaluation initiatives.
Tragically, to date, no new drug funding has been made available; CORD has publicly denounced the fact that not a single penny has been spent to fund a single rare disease drug for a single patient!
To understand the magnitude of this delay, it is important to recognize that rare disease is a significant public health issue that directly impacts over 3 million Canadians (1 in 12). Each rare disease, by definition, affects a very small number of citizens.
Most rare diseases are severe, debilitating, and/or life-threatening. While about 70 percent affect children, there are a significant number of adult-onset rare conditions. Among the 7,000 known rare diseases, only 5 percent have an effective drug therapy. Many of these are the first approved therapy or a significant advancement over previous therapies, including some new therapies that could be considered a “cure” because they address the underlying cause of a disease.
it is all the more frustrating and unconscionable that only 60 percent of these therapies are approved here in Canada, due, in part, to Canada’s long, slow, multi-step, highly uncertain coverage process. Only about 25 percent of rare disease therapies approved by Health Canada and recommended by the Canada’s Drug Agency (CDA) and/or Institut national d’excellence en santé et services sociaux (INESSS) ever get to patients through the public drug plans. Rare disease patients with no access to effective therapy undergo suboptimal surgeries or rely on off-label drugs. Many experience avoidable decline in functionality, forcing them to drop out of school or leave their jobs; others suffer preventable life-threatening or life-ending events leading to disability and early death. It is very frustrating that there has been no visible government progress and transparency on the bilateral negotiations for the $1.4 billion in available funds.
Who are the patients in urgent need of approved therapies?
- Patients with HoFH—a rare form of very high cholesterol that is ineffectively managed with statins and transfusion, leading to cardiovascular disease and premature death. An approved drug therapy significantly lowers cholesterol levels, reducing morbidity and mortality.
- Children with NF1—large tumours growing next to the nerves that cannot be surgically removed. A targeted drug therapy can reduce the size and growth of tumours.
- Patients with FOP whose muscles and tendons turn to bone, creating a second skeleton and restricting movement and breathing. A drug therapy researched in Canada reduces the risk of crises that lead to bone formation.
- Patients with oHCN whose thickened heart muscles restrict blood flow leading to heart failure, stroke, arrhythmias, and sudden cardiac death. A novel therapy targets the underlying pathophysiology by reducing myocardial contractility and reducing risk of serious symptoms.
- Adults with VHL with proliferating noncancerous tumours in kidney, brain, or pancreas that cannot be surgically removed. A drug therapy can reduce the size of tumour and avoid surgery.
- Adults with SMA whose symptoms are later onset and thereby excluded from drug therapy, resulting in muscle weakness, fatigue, limited mobility, and difficulty breathing. An effective oral therapy has been approved but is not available to adults over the age of 25 despite demonstrated benefits and availability in other countries.
- Adults with late-onset Pompé’s Disease who are denied access to treatment. An effective enzyme replacement therapy is approved but not reimbursed.
How to make the most of $1.5 billion? Invest it, one drug at a time
CORD, on behalf of the patient community, cannot wait for negotiations to deliver a master plan to spend $1.4 billion in bilateral agreements. We can and must act to make urgently needed drugs immediately available. CORD has proposed an implementation plan by which rare disease therapies that are approved and recommended can be started immediately with a defined cohort of patients along with a plan for ongoing monitoring, data collection, and assessment of benefit and potential harm.
CORD has convened a Rare Disease Drug Pathways(RDDP) working group, a multi-disciplinary multi-stakeholder group to inform the implementation of the CRDDS that will meet its stated goals and also assure timely, optimal, access to new, emerging, and “state of the art” therapies for rare disease patients The RDDP working group will run case studies and undertake analyses to develop recommendations on the criteria for the deployment of the CRDDS funding so that patients can receive funded access to new and emerging medicines for rare diseases.
Specific objectives
- Assess and report on effective practices in Canada and other jurisdictions for the funding/reimbursement of rare diseases and other complex, innovative, or targeted therapies.
- Develop a “flow chart” for the introduction, review, approval, and funding that minimizes the “time to access” and optimizes “availability to patients,” identifying barriers, challenges, and opportunities for improvement with all relevant parties, including Health Canada, CADTH/INESSS, pCPA, federal/provincial/territorial drug plans, private insurers, health system/health care providers, CIHI, industry, and patient organizations.
- Select rare disease therapies awaiting patient access or requiring updated access that can serve as case studies toward developing consensus on access, management, and funding.
- Develop consensus-based “strategic pathways” for accessing innovative, complex, and targeted (small population) therapies that address issues of urgent access, conditions for starting therapy, protocols to monitor and manage appropriate use, exceptional access programs, collecting data from clinicians and patients on safety and effectiveness in real-world settings, and adjusting individual use and treatment protocols based on evidentiary feedback, risk-sharing, and risk-mitigation protocols for all stakeholders, including patients, regulators, payers, and industry.
CORD invites all those interested in expediting access to effective therapies for rare disease patients to join us and support our efforts.
This article was made possible by the Canadian Life and Health Insurance Association and readers like you.
