They have less than 5 years, are American, french and German, and are about to receive a brand new very promising treatment
Twelve children of myopathy myotubulaire, a genetic disease characterized by extreme muscle weakness and severe respiratory failure, will participate in the first trial of gene therapy targeting this disease. “We must act very quickly, explains Serge Braun, Scientific Director of the AFM-Téléthon. It’s a race against the clock. Myotubulaire myopathy affects a newborn on 50,000, only boys. It is due to mutations of a gene pointing manufacturing – the myotubularin – molecule that plays a fundamental role in the transport and energy to muscle cells. This is the identification of this gene in 1996 by a team of Inserm in Strasbourg which allowed to develop therapeutic approaches.
Carrier viralLe principle of treatment is simple: deliver the healthy gene to the muscle cells to restore the myotubularin manufacturing. But how to get that gene into cells? The mode of transport chosen by the researchers is a small virus, which is harmless to humans.
Through genetic modification, it is able to enter the cells to proliferate. Once the virus is injected intravenously, it is distributed throughout the body. It then enters the cells and manages to inject the famous healthy gene into their core. It will then start manufacturing of myotubularin. A success in dogs “this treatment has already been tested on a dozen of labradors achieved by this myopathy,” says Serge Braun. All were rescued and are today behaviors and a close physical strength of healthy dogs. ” “No treatment is without risk,” says Serge Braun. However, we know that the virus doesn’t cause inflammatory response at doses that will be administered.
The main problem might be that the injection of this vector virus acts like a vaccine.
Later, we discover that it is necessary to réadministrer the gene, if resorting to another virus that previously used could be recognized and eliminated by the immune system.
” According to scientists, the amount of genetically modified virus that children are about to receive must be sufficient to restore the functioning of the muscles for a lifetime. “Do not give false hope to families but the scientific data are extremely strong. ” Serge Braun, Scientific Director of the AFM – Telethon at the moment, such treatment costs are extremely high, “the order of hundreds of thousands of euros”, indicates the Scientific Director of the AFM-Téléthon. “These prices will drop with the widespread use of these therapies. Besides the cost of this disease is very high for the company “, says Serge Braun. The AFM-Téléthon, which supported the research until the pre-clinical stage, was now on hand an American biotechnology company. The recently launched clinical trial must allow to assess the safety of the virus drug and identify the effective therapeutic dose. To follow. ..
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