January 2024

Dear Friends and Supporters of the Rare Disease Foundation:

As I take on the role of Board Chair for RDF, I will be asking the Board to focus at least some of its attention to the area of treatment effectiveness for rare diseases.

Drugs are increasingly becoming available for rare diseases, but in whom are they truly beneficial, or do they cause serious side effects? This is an important and unresolved problem. Every drug has three possible outcomes – it works, does not work, or harms the patient.

Adverse drug reactions (ADRs) are the fifth leading cause of death in North America. Drugs for rare diseases are tested on only a small number of patients and therefore the chance of an ADR is higher with these agents. Health Canada’s analysis found that 50% of serious ADRs are discovered only after a drug is licensed and used in the real world; often only recognized by regulators years after the drug is approved.

Most certainly there are patients in whom rare disease drugs have made a significant and lasting impact on their lives. Our work together could find them. We call these patients "extraordinary responders". On the other end of the spectrum, a specific therapy may not be helpful, and in some cases, it can harm them seriously. We could also find those patients.

Understanding the biology that underlies why some people have an extraordinary response or suffer serious harm could help us exploit that knowledge and make the drugs even more effective and safer in patients without these responses.

My vision for the Rare Disease Foundation is to revolutionize the future of drug treatment for patients withrare diseases.

Let me know what YOU think.

Warmly,

Bruce Carleton, Chair
Board of Directors