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

• Facebook

• Twitter,

• Google +,

• Pinterest

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: nick@akusociety.org

www.akusociety.orgwww.akusociety.orgnick@akusociety.org