Repurposing nitisinone for Black Bone Disease · Alkaptonuria Tyrosinaemia type 1 Albinism...
Transcript of Repurposing nitisinone for Black Bone Disease · Alkaptonuria Tyrosinaemia type 1 Albinism...
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Repurposing nitisinone for
Black Bone Disease
Lessons from the EC-funded
DevelopAKUre project
Dr Nicolas Sireau, Chairman and CEO, AKU Society
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1902: Sir Archibald Garrod
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Harwa Oldest AKU Patient
1500BC
Stenn et al 1977
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Metabolic pathway
Alkaptonuria
Tyrosinaemia type 1
Albinism
Phenylketonuria
Nitisinone
DOPA Melanin
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Lesson 1:
Make sure you understand your
disease
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The AKU tetrad
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Black Bone Disease
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Effects on spine
Sofia Michopoulou & Andrew Todd Pokropek
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A cell model
AKU Research Team
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AKU mouse model
Springer-Verlag
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Lesson 2:
Build a global patient movement
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A global patient movement
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AKU Societies in EU, Middle East
and North America
• AKU Society UK
• ALCAP (France)
• AIMAKU (Italy)
• AKU Society Germany
• AKU Society Netherlands
• AKU Society Belgium (in progress)
• AKU Society Jordan
• AKU Society Slovakia (in progress)
•AKU Society India (in progress)
• AKU Society North America (USA and Canada)
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Lesson 3:
Set up a strong clinical development
programme for your proposal
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Nitisinone
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Nitisinone reduces
homogentisic acid by
95%
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Urinary HGA
National Institutes of Health
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Three stage development plan
• Drug response study
• Clinical efficacy phase 3 trial
• Cross-sectional study to determine age of treatment
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Lesson 4:
Put together a solid EU consortium
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The DevelopAKUre partners
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Lesson 5:
Set up a clinical reference centre
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Lesson 6:
Launch the programme effectively
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