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: Working with scientists to understand the disease
Metabolic pathway Phenylketonuria DOPA Melanin Albinism Nitisinone Alkaptonuria Tyrosinaemia type 1
The AKU tetrad
Effects on spine Sofia Michopoulou & Andrew Todd Pokropek
A cell model AKU Research Team
AKU mouse model Springer-Verlag
Nitisinone
Nitisinone reduces homogentisic acid by 95%
Urinary HGA National Institutes of Health
Urinary HGA
Step 2: Working with clinicians for a centre of excellence
The Robert Gregory National Alkaptonuria Centre Funded by NHS England
Step 3: Working with clinical trial centres
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
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
Step 4: Working as a consortium with industry
The DevelopAKUre partners
Step 5: Working with patients around the world
A global patient movement
Social media • Facebook • Twitter, • Google +, • Pinterest
Online communities
Websites
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)
AKU patient Ann
Prof Ranganath, Coordinator of DevelopAKUre
"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
AKU patients Brenda, Sharon and Jennifer
Step 6: Learning from other patient groups
Step 7: Working more broadly with other stakeholders
Step 8: Sharing with the wider stakeholder community
www.findacure.org.uk
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