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
1902: Sir Archibald Garrod
HarwaOldest AKU Patient 1500BC
Stenn et al 1977
Step 1:
Working with the patient group to Working with the patient group to understand the disease
Metabolic pathway
Albinism
Phenylketonuria
DOPA Melanin
Alkaptonuria
Tyrosinaemia type 1
Nitisinone
The AKU tetrad
Effects on spine
Sofia Michopoulou & Andrew Todd Pokropek
A cell model
AKU Research Team
AKU mouse model
Springer-Verlag
Step 2:
Building a global patient movement Building a global patient movement
A global patient movement
• Twitter,
• Google +,
Social media
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)
Step 3:
Developing the drug that patients wantDeveloping the drug that patients want
Nitisinone
Nitisinone reduces homogentisic acid by
95%
Urinary HGA
National Institutes of Health
Urinary HGA
Step 4:
Setting up a Centre of Excellence to Setting up a Centre of Excellence to treat patients
The Robert Gregory National Alkaptonuria Centre
Funded by NHS England
Movement analysis with Patient Support Officer Lesley
Step 5:
Aiming for marketing authorisation to Aiming for marketing authorisation to ensure all patients can access the drug
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
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
The DevelopAKUre partners
Step 6:
The power of patient fundraisingThe power of patient fundraising
Funding
Core funding of €6,000,000
Patient support costs of $120,000
AKU patient Ann
Prof Ranganath, Coordinator of DevelopAKUre
The AKU Society team
Step 7:
Always keeping patients at the centreAlways keeping patients at the centre
"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
Lesson 8:
Broadening our options for patientsBroadening our options for patients
Step 9:
Seeking help from other patient groupsSeeking help from other patient groups
Step 10:
Sharing with other patient groupsSharing with other patient groups
www.findacure.org.uk
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
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
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
Drug repositioning for patients
The case of sirolimus and Autoimmune
Lymphoproliferative Syndrome (ALPS)Lymphoproliferative Syndrome (ALPS)
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]
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