Larry Lands, MD, PhD
McGill University Health Centre and McGill University, Montréal, QC
Cystic Fibrosis (CF) is an autosomal recessive disorder that leads to progressive lung damage and premature mortality. There are now over 4,300 Canadians with CF, with 62% being over the age of 18 years. Approximately 90% of Canadian patients carry one copy of the delF508 mutation. Understanding the basic defect, a dysfunction of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR), a chloride channel, has led to the development of highly effective CFTR modulators for those with at least one copy of delF508 or those with gating or residual function mutations. This presentation will discuss the development of these highly effective CFTR modulators and their impact on clinical outcomes in CF.
At the end of this presentation, attendees will be able to:
- Describe how mutations in CFTR affect CFTR abundance and function;
- Select modulators appropriately for the individual patient; and
- Evaluate the clinical response to modulators.
CanMEDS Roles Addressed: Communicator , Health Advocate, Medical Expert, Professional