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The patients’ perspective on the value of orphan designation
- the case of the AKU Society
Dr Nicolas Sireau, Chair & CEO, AKU Society
[email protected]
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How Patients Can Lead Drug Development
About Alkaptonuria (AKU)
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How Patients Can Lead Drug Development
1902: Sir Archibald Garrod
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How Patients Can Lead Drug Development
Harwa
Oldest AKU Patient 1500 BC
Stenn et al 1977
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How Patients Can Lead Drug Development
The AKU Tetrad
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How Patients Can Lead Drug Development
Urinary HGA
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How Patients Can Lead Drug Development
Metabolic Pathway Phenylketonuria
Albinism
Tyrosinaemia Type 1
Alkaptonuria
Nitisinone
DOPA Melanin
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How Patients Can Lead Drug Development
The value of orphan designation
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How Patients Can Lead Drug Development
How orphan designation enabled us to carry out clinical
trials
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How Patients Can Lead Drug Development
Three Studies Trial Name Description Sites
SONIA 1: Suitability of Nitisinone in Alkaptonuria 1 3-month
phase II study UK/Slovakia
SONIA 2: Suitability ofNitisinone in Alkaptonuria 2 4-year phase
III UK/Slovakia/France
SOFIA: Subclinical OchronosisFeatures
in AlkaptonuriaCross-sectional study UK
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How Patients Can Lead Drug Development
Consortium
Clinical SitesAnalysisRegulatory & Monitoring
Patient Support
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How Patients Can Lead Drug Development DevelopAKUre Last Project
Board meeting Siena
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How Patients Can Lead Drug Development
SONIA 1
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How Patients Can Lead Drug Development
SONIA 1
0% 87.6% 95.1% 97.3% 99.4%
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How Patients Can Lead Drug Development
SONIA 2
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How Patients Can Lead Drug Development
Clinical Sites
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How Patients Can Lead Drug Development
SOFIA
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How Patients Can Lead Drug Development
Statistical significance reached!
EMA provides positive opinion!
EC grants marketing authorization!
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How Patients Can Lead Drug Development
Challenges and opportunities
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Challenges and opportunities
• Funding obstacles• End point questions• Working with pharma•
Setting up a consortium• Identifying and recruiting rare disease
patients
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Dr Nicolas Sireau, Chair & CEO, AKU Society
[email protected]
www.akusociety.org
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