“Since the first Telethon in 1987, we have invested more than one billion euros in research,” comments Laurence Tiennot -Herment, president of the AFM- Té, Lethon, while the famous charity marathon will start Friday night.
Well aware that this immense appeal to the generosity, relayed by all audiovisual public service channels, did not please everyone, it emphasizes the magnitude of their task ” We support 34 therapy trials involving 26 different rare diseases that affect the blood, liver, brain, muscle and many others. ” diseases are called rare when they reach less than person in 2000, or France for less than 30 000 individuals for a given disease.
There are thousands and between 200 and 300 new diseases of this type are categorized as such each year.
According to an estimate by the European Commission, 5 000-8 000 different rare diseases affect or will affect 29 million people in the European Union.
In an attempt to provide practical assistance, AFM- Telethon is stepwise.
The money raised was first invested in understanding diseases and in the design of innovative treatments, testing, and today it can include the complete device with production of these treatments.
The laboratory funded in part by the AFM- Telethon has also obtained in June Pharmaceuticals Ownership status by the National Security Agency of Medicines and Health Products ;.
It became, according to its director, ” The first pharmaceutical company to nonprofit and largest production center for gene therapy in the world”.
This is not to say that gene therapy trials are increasing now, even if the results are not – yet? – Up to the amount spent and the hopes raised.
Admittedly, since the first attempts made to treat ” bubble babies ” with severe immunodeficiencies rare sixty children were cured in the world, recalls the AFM.
Further tests are planned including Fanconi anemia, end of 2014, to correct the production of red blood cells.
Latest, a gene therapy trial has been launched at the Bicetre hospital in toddlers against disease Sanfilippo B.
” This is a very rare genetic disorder, but devastating to the brain, resulting in death at the age of 15 years,” the neurologist Marc Tardieu, who works with the Research Unit of Jean- Michel Heard of the Pasteur Institute.
The treatment involves injecting them with a corrective gene through small incisions in various areas of the brain so that it will spread and there produce the missing enzyme.
This is probably the myopathy that work are the most numerous.
An international phase 3 trial with Ataluren, a molecule also tested in cystic fibrosis, was launched in April.
It covers 13% of boys with Duchenne muscular dystrophy whose genetic defect, “Stop” mutation stops the production of a protein, dystrophin, whose failures cause disease.
“We had to develop tools to measure the effectiveness of treatments tested as pins used in the tests for widespread diseases are not well adapted rare diseases, “says researcher Thomas Voit, leading another trial to another mutation of this myopathy.