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