What are rare diseases and how do they affect Canadians?

According to Health Canada, rare diseases are life-threatening, debilitating, or serious and chronic conditions that affect a small number of individuals. In Canada, the Canadian Organization for Rare Disorders defines a rare disease as one that affects fewer than one in 2,000 people, which is also the figure the European Union uses. The United States' National Institutes of Health and Human Services defines a rare disease as any condition that affects fewer than 200,000 people in the U.S (1). Estimates of the number of people living in Canada with a rare disease vary widely; one estimate is that one in 12 Canadians, two-thirds of them children, live with a rare disease, while another puts the number at one million people overall (1, 2). Rare diseases have several things in common (1):

  • Approximately 80 percent of rare diseases have a genetic basis.
  • About half the people with rare diseases are children whose disease is recognized through pre-natal screening or at birth or shortly thereafter.
  • Many children with rare diseases die before their first birthday.
  • People with rare diseases often rely on a great deal of medical care and may have limited life expectancy.

Although each rare disease on its own may affect only a small number of individuals, it is estimated that there are between 6,000 and 8,000 distinct rare diseases worldwide, with almost weekly reporting of newly identified disorders, and approximately 250 new diseases identified annually (3).

Drugs for rare diseases regulatory trends

Drugs for rare diseases (DRDs), also referred to as orphan drugs in some jurisdictions, are typically small-molecule drugs or biopharmaceuticals used to treat rare diseases. Over the past 30 years, research, development, and availability of innovative drugs to treat rare diseases have been enhanced through the introduction of orphan drug legislation and associated orphan drug policy economic incentives. As a result, there has been a shift in the focus of the biopharmaceutical industry’s research and development priority from blockbuster to niche drugs, leading to expansion of the DRD pipeline and the number of marketed DRDs (3).

History of orphan drug regulatory framework in Canada

Health Canada proposed an Orphan Drug Regulatory Framework in 2012, but it was not enacted.

In 2019, the federal Government committed to creating a national strategy for drugs for rare diseases. In 2021, Canadian Agency for Drugs and Technologies in Health (CADTH) released the final report on drugs for rare diseases framework (4). Consultation on the final report took place in the summer of 2021. The objective was to launch the national strategy in 2022.

In the meantime, orphan drugs therefore follow the same regulatory approval process as other drugs in Canada. This standard pathway includes a New Drug Submission which requires manufacturers to submit evidence of a drug’s safety, efficacy and quality to Health Canada. If a submission is acceptable, Health Canada issues a Notice of Compliance (NOC), which allows a manufacturer to market the drug in Canada. There are some programs to help sponsor development and incentive as outlined below (5).

Existing tools for drug sponsors

When filing submissions for a drug for a rare disease, some of these resources can be applied (5):

Advice on clinical trial applications, clinical trial design in small populations and planning New Drug Submissions

Health Canada encourages sponsors to seek regulatory advice before filing their applications. Advice varies according to the stage of development of the drug.

Sponsors should address requests for advice to the appropriate Bureau's or Centre's Director, found on the Health Canada Pre-Clinical Trial Application Consultation Meeting website. Advice can be sought from Health Canada on:

  • Acceptability of patient safety considerations in trial designs;
  • Acceptability of trial design to inform a market authorization;
  • Pediatric considerations, and;
  • Regulatory requirements regarding chemistry and manufacturing (quality)

Meetings can be arranged as clinical trials application consultation meetings or in preparation for a New Drug Submission (NDS) or Supplemental New Drug Submission (SNDS).

In some cases, several consultations may be needed in between these milestones and can be requested by the sponsor.

In addition, sponsors may refer to the:

Accelerated Review Pathways

Most new drugs have a review target of 300 days.

In addition to the usual NDS process, Health Canada offers pathways for accelerating the regulatory review process for drugs that are:

  • Serious
  • Life-threatening or
  • Severely debilitating

There are 2 types of accelerated pathways sponsors can apply for:

      1.  Notice of Compliance (NOC) with conditions

A drug submission reviewed under the Notice of Compliance with Conditions (NOC/c) pathway has a review performance standard of 200 days and applies to a NDS or a SNDS. The NOC Guidance provides early access to promising new drugs for patients suffering from serious, life-threatening or severely debilitating diseases or conditions for which:

  • No drug is presently marketed in Canada or
  • A significant increase in efficacy and/or significant decrease in risk such that the overall benefit/risk profile is improved over existing therapies, preventatives or diagnostic agents for a disease or condition that is not adequately managed by a drug marketed in Canada.

   2.  Priority Review

A drug submission reviewed under the Priority Review policy has a review performance standard of 180 days and applies to a NDS or a SNDS for a serious, life-threatening or severely debilitating disease or condition for which there is substantial evidence of clinical effectiveness to show that the drug provides:

  • Effective treatment, prevention or diagnosis of a disease or condition for which no drug is presently marketed in Canada or
  • A significant increase in efficacy and/or significant decrease in risk such that the overall benefit/risk profile is improved over existing therapies, preventatives or diagnostic agents for a disease or condition that is not adequately managed by a drug marketed in Canada.

Some other tools or resources that can be used for filing submissions for orphan drugs include:

Currently, Canadians with rare diseases can access the drugs they need in the following ways (1):

  • Through government drug plans: These tend to be focused on coverage for certain populations, such as seniors, people on social assistance, or people with specific diseases.
  • Through private drug plans: The majority of these are employer-sponsored plans, although it is possible for individuals to pay for private drug insurance. Private insurance may limit the amount covered for a particular drug each year or over the life of a patient.
  • By paying out of pocket: Because drugs for rare diseases are so expensive, patients generally cannot afford to pay by themselves. Some manage through community fundraising.
  • Through a patient-support program: These programs may be offered by pharmaceutical companies on a compassionate basis to provide access to a drug in cases where it is not covered by public or private drug plans.
  • By enrolling in a clinical trial or through Health Canada's Special Access Program: Clinical trials and the Special Access Program (SAP) give access to drugs that are still in development or are not yet authorized for sale in Canada.

Ongoing regulatory improvements by Government of Canada

Health Canada’s Regulatory Review of Drugs and Devices Initiative aims to make regulatory processes more efficient and better able to meet the needs of the health care system. This includes meeting the needs of people with rare diseases.

In July 2021, Health Canada released a What We Heard Report from national engagement on the National Strategy. The engagement garnered diverse perspectives from over 650 individuals and organizations, including patients with lived experience, family members, and caregivers.

In December 2022, Health Canada pre-published proposed amendments to the Food and Drug Regulations that would introduce regulatory flexibilities such as the option of a rolling review, which may facilitate earlier market access for certain drugs, including drugs for rare diseases. The proposal would also allow for terms and conditions for all drugs, enabling Health Canada to include obligations on the manufacturer to optimize the benefits and manage any risks and uncertainties associated with the drug. This would be particularly important in the cases of drugs for rare diseases where patient populations are small.

Additionally, Health Canada's Pediatric Drug Action Plan aims to improve access to safe and effective medicine for children in Canada, including drugs for rare diseases, which tend to be more prevalent in the pediatric population (6).

Recent initiatives by Government of Canada

On March 22, 2023, the Honourable Minister of Health announced measures in support of the first-ever National Strategy for Drugs for Rare Diseases, with an investment of up to $1.5 billion over three years. Through this, the aim is to increase access to, and affordability of, effective drugs for rare diseases to improve the health of patients across Canada including children.

As part of this overall investment, the Government of Canada will make available up to $1.4 billion to provinces and territories through bilateral agreements. This funding will help provinces and territories improve access to new and emerging drugs, as well as support enhanced access to existing drugs, early diagnosis, and screening for rare diseases. This will help patients with rare diseases, including children, have access to treatments as early as possible for better quality of life.

As a critical next step to advance the development of these bilateral agreements and to seek national consistency in coverage for drugs for rare diseases, the Government of Canada will engage with provinces and territories to jointly determine a small set of new and emerging drugs that would be cost-shared and covered in a consistent way across the country, for the benefit of patients. Similarly, to further support eligible First Nations and Inuit patients living with rare diseases, $33 million from this funding will go to Indigenous Services Canada's Non-Insured Health Benefits Program.

In addition, Government of Canada will also invest $68 million for various initiatives to help improve consistent access to drugs for rare diseases across the country, including:

  • $20 million over three years to the Canadian Agency for Drugs and Technologies in Health (CADTH) and the Canadian Institute for Health Information (CIHI) to improve the collection and use of evidence to support decision-making;
  • $32 million over five years to the Canadian Institutes of Health Research (CIHR) to advance rare disease research with a focus on investing in innovation: developing better diagnostic tools and establishing a robust Canadian rare disease clinical trials network; and,
  • $16 million over three years to support patient outcomes and system sustainability: supporting the establishment of national governance structures, such as a Health Canada secretariat and a stakeholder Implementation Advisory Group, to support the implementation of the Strategy.

The announcement was the result of feedback from extensive consultation (8) that garnered diverse perspectives from over 650 individuals and organizations, including patients with lived experience, family members, and caregivers. To create this Strategy, lived experiences were taken into careful consideration to ensure Canadians living with rare diseases have access to the drugs they need and receive better treatments and services, regardless of where they live. In addition, this Strategy will improve the collection and use of evidence and strengthen investments in critical research and innovation in rare diseases.

The Government of Canada will continue to work with provinces, territories, and key partners to deliver on these improvements so those living with rare diseases can have better health outcomes and access to cutting-edge treatment options (6, 7).

Canadian Organization for Rare Disorders (CORD)

Canadian Organization for Rare Disorders (CORD) is Canada’s national network for organizations representing all those with rare disorders. CORD provides a strong common voice to advocate for health policy and a healthcare system that works for those with rare disorders. CORD works with governments, researchers, clinicians, and industry to promote research, diagnosis, treatment and services for all rare disorders in Canada. Its mission is to provide a strong common voice to advocate for health policy and a healthcare system that works for those with rare disorders (8).

CORD links patients with one another and support groups; parents of a newly diagnosed infant to information and specialists; patient groups with drug developers and drug plan managers; to the public and with clinicians, grantors, industry, governments, and decision makers on behalf of all those with rare disorders (9).

CORD priorities

  • CORD represents the rare disease community in the development of a Canadian Rare Diseases Drug Strategy in collaboration with Health Canada and other public and private decision makers.
  • CORD is committed to promoting state-of-the-art Newborn Screening and increasing access to genetic testing, genomic diagnosis, and genetic counselling for all rare disease patients and families.
  • CORD is committed to implementing Canada’s Rare Disease Strategy which covers screening and diagnosis, access to specialists and centers of expertise, access to community support including patient organizations, timely access to the best treatment, and support for Canadian excellence in research and development, including clinical trials and new technologies.
  • CORD is committed to full engagement of patients and families in all policy and decision-making processes relevant to rare diseases.

CORD objectives

CORD’s main objectives is to educate and raise awareness among health professionals, media, public and policy makers about rare disorders in Canada, help and participate in implementing its Canadian Rare Disease Strategy/Framework, increase capacity of patient community to advocate and participate on behalf of rare disease and promote research on rare disorders in Canada (8).


Initiatives are being taken by the Government of Canada and various organizations like CORD to promote a health care system that works for those with rare disorders.