The document discusses a case study of Fabry disease presented at Canada's Rare Drug Strategy Conference, highlighting its symptoms, the challenges of diagnosis, and the impact on life expectancy. It notes the available treatment options, specifically enzyme replacement therapies, and emphasizes the delays in resolving issues related to the disease despite proven treatment effectiveness. The speaker reflects on their personal experience with the disease, noting significant advancements over the years.

1. CORD June 8 – 9, 2022
Canada's Rare Drug Strategy
Conference
Fabry Disease - Case Study
Adrian & Marlene
Koning
Edmonton, AB

2. Fabry Disease
• X-linked Life Threatening LSD caused by a
Deficiency of Enzyme alpha-GAL ➔
accumulation GL-3 in all cells and tissues
• Ultra orphan disease - 1 in 40,000 to 117,000
• Diagnosis difficult ➔ average 17 years
• Me: 43 with total kidney failure Jan. 2001
• Life expectancy for males - between 40-50
• Koning family: 32 to 48!

3. Fabry Disease - Symptoms
• Extreme Pain in Hands and Feet
• Angiocharatomas
• Gastrointestinal Malabsorption
• Heart Failure
• Stroke, Hearing Loss & Vertigo
• No Sweating & Intolerant Temp Δ
• Kidney Failure

4. Treatment Available 20+ years
• Enzyme Replacement Therapy
• Replagal™ (agalsidase alfa @ 2.0mg/kg)
• Fabrazyme™ (agalsidase beta @1.0mg/kg)
• Start treatment May 2001
• Why 20+ years this issue is not resolved?
• Science proves its effectiveness!
• Should have been dead at 50! 64 on 06/12

5. Fabry Disease - This is not 1959