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Open collaboration for research 8 steps from Black Bone Disease Dr Nicolas Sireau Chairman and CEO, AKU Society Chairman and Co-founder, Findacure 1902: Sir Archibald Garrod Harwa Oldest AKU Patient 1500BC Stenn et al 1977 Step 1:


  1. Open collaboration for research 8 steps from Black Bone Disease Dr Nicolas Sireau Chairman and CEO, AKU Society Chairman and Co-founder, Findacure

  2. 1902: Sir Archibald Garrod

  3. Harwa Oldest AKU Patient 1500BC Stenn et al 1977

  4. Step 1: Working with scientists to understand the disease

  5. Metabolic pathway Phenylketonuria DOPA Melanin Albinism Nitisinone Alkaptonuria Tyrosinaemia type 1

  6. The AKU tetrad

  7. Effects on spine Sofia Michopoulou & Andrew Todd Pokropek

  8. A cell model AKU Research Team

  9. AKU mouse model Springer-Verlag

  10. Nitisinone

  11. Nitisinone reduces homogentisic acid by 95%

  12. Urinary HGA National Institutes of Health

  13. Urinary HGA

  14. Step 2: Working with clinicians for a centre of excellence

  15. The Robert Gregory National Alkaptonuria Centre Funded by NHS England

  16. Step 3: Working with clinical trial centres

  17. Three Studies Trial Name Description Sites SONIA 1 : Suitability of 3-month phase II study UK/Slovakia Nitisinone in Alkaptonuria 1 SONIA 2 : Suitability of 4-year phase III UK/Slovakia/France Nitisinone in Alkaptonuria 2 SOFIA : Subclinical Ochronosis Features Cross-sectional study UK in Alkaptonuria

  18. Three Clinical Trial Sites 1) Liverpool, UK Royal Liverpool University Hospital PI: Prof L Ranganath 2) Paris, France Hôpital Necker PI: Prof Pascale de Lonlay 3) Piešťany , Slovakia National Institute of Rheumatic Disease PI: Prof Jozef Rovenský

  19. Step 4: Working as a consortium with industry

  20. The DevelopAKUre partners

  21. Step 5: Working with patients around the world

  22. A global patient movement

  23. Social media • Facebook • Twitter, • Google +, • Pinterest

  24. Online communities

  25. Websites

  26. AKU Societies in EU, Asia, Middle East and North America • AKU Society UK • ALCAP (France) • AIMAKU (Italy) • AKU Society Germany • AKU Society Netherlands • AKU Society Jordan • AKU Society India • AKU Society Slovakia • AKU Society North America (USA and Canada) • AKU Society Belgium (in progress) • AKU Society Sweden (in progress) • AKU Society Asia (in progress)

  27. AKU patient Ann

  28. Prof Ranganath, Coordinator of DevelopAKUre

  29. "These trials have given us great hope. This treatment could completely change our lives. We’re that one step closer to a cure .” - Belgium AKU patient

  30. AKU patients Brenda, Sharon and Jennifer

  31. Step 6: Learning from other patient groups

  32. Step 7: Working more broadly with other stakeholders

  33. Step 8: Sharing with the wider stakeholder community

  34. www.findacure.org.uk

  35. Rare Diseases: Challenges and Opportunities for Social Entrepreneurs Out now! With chapters from leaders in the rare disease sector Contact: nick@akusociety .org

  36. www.akusociety.org nick@akusociety.org

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