1. Rare Blood Disorder Initiative, Blood Surveillance Sept 30, 2006 Bruce Ritchie Hematology, University of Alberta, Edmonton, Alberta

2. Disclosure Honoraria: Bayer, Baxter, Sanofi, Astra-Zeneca, Novo-Nordisk, Aventis- Behring, ZLB, Pharmacia, Pfizer - all go towards studentships Studentships: Pharmacia, Baxter, Sanofi, Novo-Nordisk, Bayer Travel Support: Bayer, Baxter, Astra-Zeneca, Novo-Nordisk, Pharmacia, Canadian Hemophilia Society, Canadian Hereditary AngioEdema Society, Canadian Immunodeficiency Patient Organization, Alberta Association of Radiologists, Research Funding: Bayer, Baxter, Novartis, NovoNordisk, CHS, Health Canada/Public Health Agency of Canada.

3. Outline of my presentation Rare Blood Disorder Initiative What is it? What is needed? How do we get it? Treatment surveillance Networks in place in Canada Sample collection/testing Inhibitors, HIV BBPSP

4. Rare Blood Disorders Initiative What is it? It is: specialized care for rare disorders including: specialized diagnostics specialized management - immunizations, … specialized tracking of outcomes surveillance

5. Rare Blood Disorders Initiative Hemophilia Untreated Hemophilia - median survival of 25 Optimal management - near normal life span Currently we have close to optimal management Available: Clinic for early diagnosis, treatment, tracking, surveillance

6. Rare Blood Disorders Initiative Sickle Cell Anemia Untreated Sickle cell anemia - median survival of 25 Optimal management - near normal life span Currently we have something in between. Needs: Better and earlier diagnosis, treatment Better tracking Better transfusion management Better chelation management

7. Exchange transfusion Sickle Cell Anemia Exchange Transfusion More effective to lower % of sickle cells (<30%) Less iron overload Requires specialized equipment and staff

8. Rare Blood Disorders Initiative Hereditary AngioEdema Undiagnosed HAE common Mistreated HAE common - antihistamines, steroids, adrenalin dont work Optimal management - near normal life span Currently we have something in between. Needs: Better and earlier diagnosis, treatment Better tracking Home management

9. Home Rx Hemophilia, HAE, PID

10. Rare Blood Disorders Initiative Primary Immnodeficiency Undiagnosed PID common Mistreated PID common Optimal management - near normal life span Currently we have something in between. Needs: Better and earlier diagnosis, treatment Better tracking Home management - IgSC

11. Kazatchkine, M. D. et al. N Engl J Med 2001;345:747-755 The IgG Molecule Hypogqammaglobulinemias

12. IgIV Outcomes Headache, Aseptic Meningitis Allergy, anaphylaxis Acute Renal Failure in the elderly, diabetes Blood Borne Pathogens - hepatitis C in mid 1990s IgSC Immunoglobulin 16% IgSC solutions licensed in Europe (ZLB, CSL), IgIm preparation licensed here (Talecris) Unlicensed (SAP) vs Off-label use of IgIM or IGIV for SC

13. Subgam - Patient Satisfaction Survey After 6 months:

14. IVIG/SCIG Cost Comparison (£) Year 1 Adult Drug Cost Routine Consultations and Tests Patient Training Syringe Drivers Maintenance TotalYear 1 SCIG Home Based 10,752 673 365 1,762 804 14,356 IVIG Hospital Based 10,752 673 n/a 4,812 16,237

15. Rare Blood Disorders Initiative Bone Marrow Failure Undiagnosed mild disease common, but there is associated morbidity Specific treatment not readily available except in trials Currently we have something in between. Needs: Better and earlier diagnosis, treatment Better tracking Better transfusion management Better chelation therapy - ?Exjade

16. Rare Blood Disorders Initiative What is needed? A clinic with dedicated staff consisting of: 1. nurse, admin assistant, data entry person, physician 2. space - offices, stuff, storage, computers 3. Oversight - Multidisciplinary group (patients)

17. Rare Blood Disorders Initiative How do we get it? Lobbying - governments dont listen to phsycians, so patients must lobby on their own behalf Organize meet, talk, argue, reach consensus establish policy - Rx, safety, … Network of Rare Blood Disorder Organizations,

18. FVIII Concentrates purified from up to 100,000 donors Hemophilia & HIV

19. http://www.hc-sc.gc.ca/english/protection/krever/

20. Transmissible Spongiform Encephalopathies (TSEs) Rodent TSE Hamster, Mouse Sheep TSE Scrapie Bovine TSE BSE Cat TSE FSE Mink TSE TME Deer, Elk TSE CWD Human TSE Classical CJD, GSS, FFI, SP Kuru, New Variant CJD Normal host protein Proteinase K sensitivity 33–35 kD MW PrP C PrP SC  Associated with infectivity  Proteinase K partial resistance  33–35 kD MW

21. Treatment surveillance Networks in place in Canada Quebec Blood Surveillance Network Health Canada AHCDC - BBPSP Sample collection/testing Inhibitors, HIV BBPSP - Blood Borne Pathogens Surveillance Project

23. Canadian Hemophilia Assessment and Resource Management information System (CHARMS) & NACHC Product distribution (CBS) Clinical outcomes (clinic) CBS, HQ CenterPoint server, Hamilton Genotyping (AHCDC) Sample archive Health Canada Manufacturers CBS, QBS Provincial Governments Drug Company Palm Pilot systems Adverse events Product use/outcomes

24. PDA systems on handheld device Views - Messages Dialog - Bayer (formerly HemaScan) Began as a PDA based inventory system Barcodes generated by system Now includes internet module Currently in trial in Hamilton, Ste. Justine, Edmonton Data management Arrowhead Advoy - Baxter Began as a web based management system Will use consensus barcodes Now includes PDAs Currently in trial in Toronto, Edmonton Data management 3rd party

25. Machine Readable Labels

27. Freezer Map

29. The Inventory Database

30. Bruce Ritchie

34. Gene Therapy for point mutations Genotyping Chimeroplasty