Many gene therapy trials underway raise the hopes of the families concerned. But the results are not (yet) in height.
As these five children, they are likely to wait for advances in medical research.
“Since the first Telethon in 1987, we have invested more than one billion euros in research,” comments Laurence Tiennot-Herment, president of the AFM-Telethon , while the famous charity marathon will start Friday evening. 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 affecting the blood, liver, brain, muscle and many others. “
Diseases are called rare when they reach less than one in 2000, either for France 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.
60 Children Recovered
In an attempt to provide practical assistance, AFM-Telethon is in stages. The money raised was first invested in understanding diseases and in the design of innovative treatments, testing, and today it provides complete device including the 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 Bicêtre Hospital (Val-de-Marne) 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 consists of injecting a corrective gene them through small incisions in various areas of the brain that is to be spread and there produce the missing enzyme.
This is probably the myopathy that work are the most numerous. An international phase 3 trial (last phase before any authorization on the market) with Ataluren, a molecule also tested in cystic fibrosis, was launched in April. It covers 13% of boys with Duchenne muscular dystrophy (2500 patients in Europe including 250 in France), the 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 to rare diseases,” says researcher Thomas Voit (Institute of Myology), which leads another test for another mutation of this myopathy. Him as his colleagues hope that this year, the French will be generous.
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