Rare Diseases

What is a rare disease?

A rare disease is generally defined as a disease or condition that affects a small number of individuals within a given population. The threshold for what is considered “rare” is defined by every country.

Given the variability in definitions across geographies, Rare Diseases International (RDI) partnered with global experts to develop an Operational Description of Rare Diseases.

This definition includes the following dimensions:

  • What diseases are considered rare

  • How many persons are affected

  • Why the rare disease community demands their specific attention

To learn more about this work, visit: https://www.rarediseasesinternational.org/description-for-rd/

How does a rare disease affect an individual throughout their life?

Rare diseases affect more than the health of an individual. As with many diseases, impact is felt across all life domains including education, labor, social, etc. The disease also affects more than the individual; it often results in limitations and burdens for family, friends, and other close ones. Lastly, there are also significant societal implications associated with the diagnostic odyssey, holistic care of rare diseases and productivity loss.

RDI produced the following video depicting a journey through life with a rare disease:

Needs of the rare disease community

Generally, more understanding and recognition results in better national frameworks and availability of care options for persons living with a rare disease. This can also lead to reduced stigma and better social integration. Below are some key themes in the needs of this community; the prioritisation of each of these depends of the maturity of the disease, the advocacy community, and the country’s healthcare system.

  • Data demonstrating burden of rare diseases: More cohesive/better integrated data to demonstrate burden of rare diseases in the population (prevalence, cost to society, inequities in care, etc.)

  • Political recognition resulting in policies and budget: Frameworks within a society to ensure the proper access to screening, care, and treatment and inclusion of persons living with rare diseases

  • Training new specialists and mapping/coordinating current expertise: Mapping and connecting expertise within a region, capability building and education to increase expertise, and coordination of care across specialists teams

  • Social inclusion and empowerment of families and individuals: Focus on understanding, awareness, equity, acceptance and social inclusion

To read about these and other needs in more detail, please see the publication Common Needs of the Rare Disease Population Identified Globally.

Results presented as a poster at European Conference on Rare Diseases (ECRD) 2022

 
 

Key international policy milestones that support rare diseases

Rare diseases have been gaining momentum in the international stage. Most recently, with the adoption of:

You can learn more about these international policy frameworks in the following blog posts:

Rare diseases in regulatory and HTA/reimbursement discussions

Therapies for rare diseases are also referred to as orphan medical products. While there is always value in involving the patient community in regulatory and HTA discussions, this becomes even more crucial in rare diseases because:

  • Population sizes are small leading to an incomplete understanding of rare disorders and their progression

  • Clinical and quality-of-life evidence is limited resulting in uncertainties about effectiveness of a potential new therapy

  • Cost-effective models do not fully characterize progression of disease or benefit of treatment

  • Condition are heterogeneous and affect a high rate of children

  • Nature of many of these conditions leads to severely disabling or life-threatening consequences

  • Due to few options in therapeutic interventions for most conditions, the unmet need in the community is high

To learn more about the HTA process for orphan products, please view the following blog: