François Lamy

AFM-Téléthon

What is AFM-Téléthon

A patients’ organisation, patients and relatives fighting neuromuscular diseases, rare genetic disorders that kill muscle after muscle.

An organisation bringing together volunteers and employees, guided by patients’ interest and the urgency of evolving conditions.

A goal which remains unchanged: conquering the disease.

A strategy of general interest which gives priority to innovation.

Exceptional popular support through the Telethon, its annual fundraising event.

The values of AFM-Telethon are those of patients and their parents who are determined to do everything in

their power to defeat the disease “ “

AFM-Téléthon in dates

Creation of the AFM-Telethon, by Yolaine de Kepper, a mother of 7 children including 4 boys with Duchenne Muscular Dystrophy.

Publication of the first human genome maps, by Genethon. The maps are offered to the scientific community at UNESCO in October.

1958

1992

1987 Broadcasting of the first Telethon on Antenne 2. Year after year, it provides the AFM-Telethon with the means to support rare disease research.

First major gene therapy victory for “bubble babies”, funded by AFM-Telethon.

The Rare Disease Platform, founded and mainly funded by AFM-Telethon, represents 6000 to 8000 rare diseases and 3 million patients.

2000

2001

1997 Creation of EURORDIS dedicated to rare diseases patients advocacy in Europe.

Genethon becomes a pharmaceutical establishment, a first for a laboratory created by an association of patients.

Launch of YposKesi, an industrial platform designed to develop and produce innovative therapy products.

2013

2016

CURE

CARE

COMMUNICATE

CURE Research & development of

therapies

CARE For patients and their relatives

COMMUNICATE In relation to its missions

THREE SOCIAL MISSIONS

COMMUNICATE

• REGULAR INFORMATION To: patients, general public, health

professionals, researchers, journalists and decision-makers.

Through: website, specialized publications, videos, visits of the 3 laboratories, and scientific and medical congresses.

Raising awareness of rare diseases,

Advocating for a greater participation and recognition of patients’ role in society.

Spreading up-to-date knowledge on recent scientific developments,

TELETHON

Million donors

€

A 30-hour fundraising broadcast on France Televisions channels

1

About 90.000.000 raised

250.000 volunteers mobilized to organise 18.000 fundraising events

CARE

IMPROVING PATIENTS’ QUALITY OF LIFE

WHILE WAITING FOR A CURE.

Patient support: Regional services Interest groups Facilitators

Advocacy for the rights of people with disabilities:

Rare diseases as a priority for public health First and Second National Rare Diseases Plans in

France

Creation of the Rare Disease Platform

Creation of respite homes

About 30 Millions committed to the Care mission

9

€

2 respite homes: “Villages Répit Familles”® The Yolaine de Kepper centre, a residential care home for highly dependent patients

171 professionals in 18 regional services 1 Rare Diseases Platform, bringing together key stakeholders of rare diseases in France and Europe.

CURE

3 research laboratories:

Genethon

I-Stem

Institute of Myology

GENE THERAPY

STEM CELL

THERAPY

MYOLOGY

Scientific council : 84 expert members Evaluation of research programmes Advisory opinions to the Board of Directors Board of directors composed of patients and their relatives.

RESEARCH AND THE DEVELOPMENT OF

INNOVATIVE THERAPIES

6 gene therapy medicinal products have received a marketing authorisation

€ About 60 Millions € committed to the Cure mission

More than 30 clinical trials, ongoing or in preparation for 26 different diseases

More than 250 programmes and young researchers financed

Généthon - 30 years of innovation

8 gene therapy medicinal products under clinical trial phase

- Myotubular myopathy

- Crigler Najjar

- Wiskot Aldrich Syndrome

- Leber Optic Neuropathy

- Fanconi Anemia

- Spinal Amyotrophy

- Severe Immunodeficiency

More than 50 clinical sites, ongoing in 9 countries

1 Market authorisation in the USA (zolgensma)

Généthon – a broad network

Access to therapies for all: a global challenge

FAIR PRICE

BIOPRODUCTION

• High price innovative therapies

• Disconnected to actual costs

• Lack of transparency

• High discrepancy from a country to another

• A factor 100 improvement in production processes is required.

• European sanitary independency

REGULATION

VERY RARE DISEASES • Use of first innovative therapies as a

proof of concept for other more rare disease.

• Use of High Throughput Screening technology on stem cells models of the disease.

• New born screening.

• Early access programs