adopting a truly patient-centric strategy to find a cure for rare diseases
DESCRIPTION
Dr Nicolas Sireau, Chairman and CEO, AKU Society, Chairman and Co-founder, Findacure, a speaker at the Evolution Summit 2014, discusses 10 steps from Black Bone DiseaseTRANSCRIPT
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Adopting a truly patientAdopting a truly patient--centric centric strategy to find a cure for rare strategy to find a cure for rare
diseasesdiseases
10 steps from Black Bone Disease10 steps from Black Bone Disease
Dr Nicolas SireauChairman and CEO, AKU Society
Chairman and Co-founder, Findacure
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1902: Sir Archibald Garrod
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HarwaOldest AKU Patient 1500BC
Stenn et al 1977
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Step 1:
Working with the patient group to Working with the patient group to understand the disease
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Metabolic pathway
Albinism
Phenylketonuria
DOPA Melanin
Alkaptonuria
Tyrosinaemia type 1
Nitisinone
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The AKU tetrad
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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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Step 2:
Building a global patient movement Building a global patient movement
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A global patient movement
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• Twitter,
• Google +,
Social media
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Online communities
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Websites
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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)
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Step 3:
Developing the drug that patients wantDeveloping the drug that patients want
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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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Urinary HGA
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Step 4:
Setting up a Centre of Excellence to Setting up a Centre of Excellence to treat patients
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The Robert Gregory National Alkaptonuria Centre
Funded by NHS England
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Movement analysis with Patient Support Officer Lesley
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Step 5:
Aiming for marketing authorisation to Aiming for marketing authorisation to ensure all patients can access the drug
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Trial Name Description Sites
SONIA 1: Suitability of Nitisinone in Alkaptonuria 1
3-month phase II study UK/Slovakia
SONIA 2: Suitability of
Three Studies
SONIA 2: Suitability ofNitisinone in Alkaptonuria 2
4-year phase III UK/Slovakia/France
SOFIA: Subclinical Ochronosis Features
in AlkaptonuriaCross-sectional study UK
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1) Liverpool, UK Royal Liverpool University HospitalPI: Prof L Ranganath
2) Paris, France Hôpital Necker
Three Clinical Trial Sites
Hôpital NeckerPI: Prof Pascale de Lonlay
3) Piešťany, SlovakiaNational Institute of Rheumatic DiseasePI: Prof Jozef Rovenský
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The DevelopAKUre partners
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Step 6:
The power of patient fundraisingThe power of patient fundraising
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Funding
Core funding of €6,000,000
Patient support costs of $120,000
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AKU patient Ann
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Prof Ranganath, Coordinator of DevelopAKUre
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The AKU Society team
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Step 7:
Always keeping patients at the centreAlways keeping patients at the centre
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"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
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AKU patients Brenda, Sharon and Jennifer
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Lesson 8:
Broadening our options for patientsBroadening our options for patients
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Step 9:
Seeking help from other patient groupsSeeking help from other patient groups
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Step 10:
Sharing with other patient groupsSharing with other patient groups
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www.findacure.org.uk
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Empowering patients
Findacure aims to help patients
Set up
entrepreneurial
patient
organisations
Drive the
development of
treatments
Build networks
with the
scientific and
medical sector
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Fundamental diseases are extreme and rare genetic disorders that offer a unique opportunity
to better understand other diseases, including many common conditions.
What are fundamental diseases?
Familial
Hypercholesterolemia
Heart disease
Alkaptonuria
Osteoarthritis
Neuroacanthocytosi
s
Parkinson’s and
Huntington’s
Hypophosphatasi
a
Osteoporosis
Congenital
generalised
lipodystrophy
Type II diabetes
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We are organising a series of workshops with
expert speakers. Topics include:
Empowering patients
Living with a
fundamental
disease
How to manage a
patient group
Collaborating on
clinical trials
Working with the
pharmaceutical
industry
Working with
academia to
develop research
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Drug repositioning for patients
The case of sirolimus and Autoimmune
Lymphoproliferative Syndrome (ALPS)Lymphoproliferative Syndrome (ALPS)
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Rare Diseases: Challenges and Opportunities for Social Entrepreneurs
A new book
out now!
With chapters from leaders in
the rare disease sector
Contact: [email protected]