Duchenne muscular dystrophy, Sanfilippo B disease, Fanconi anemia: these rare diseases could soon have a treatment, thanks to the donations granted to the Telethon.
Each year, the Telethon makes its return to the media. The generosity of the French will be solicited on December 5 and 6. It is still as important as ever, because the donations collected are used in part to fund clinical research. In 2013, theAFM-Telethon has invested almost 55 million euros in laboratories, clinical trials and research projects. Gene therapy is unsurprisingly at the heart of ongoing trials, and drugs should be available soon.
Duchenne muscular dystrophy
Spinal atrophy
Sanfilippo B disease
Leber’s Amaurosis
Wiskott-Aldrich syndrome
Chronic septic granulomatosis
Fanconi anemia
Duchenne muscular dystrophy
The European Medicines Agency (EMA) has granted a conditional marketing authorization (MA) at Ataluren in the treatment of this neuromuscular disease. This medicine allows the body to ignore a genetic mutation that blocks the production of dystrophin. This protein is expressed in muscle cells, so it is essential for the proper functioning of muscles.
In addition, a gene therapy trial will begin in 2016. It will attempt to treat, by loco-regional route, the upper limbs of patients, by “skipping” exon 53 – a “brick” of the coding gene.
Spinal atrophy
The first results of a phase II / III study on olesoxime were presented at the congress of the American Academy of Neurology (AAN) last April. The double-blind, placebo-controlled trial was carried out on 165 sick patients. He revealed the neuroprotective effect of the drug in patients, whose disease affects motor neurons, those which govern the muscles necessary for walking, for controlling the head and neck, or even swallowing.
Sanfilippo B disease
A clinical trial was launched in October 2013 in this genetic disease that affects the digestion and recycling of the lysosome, which has a function of “cellular trash.” Four patients, including two French, were treated. They were given a viral vector by injection into several areas of the brain. It delivers to brain cells one of the four genes that can mutate in patients. Since 2003, the AFM-Telethon has allocated 7 million euros to pre-clinical and clinical work.
Leber’s Amaurosis
A clinical trial started in 2011 with 9 patients. They received, in the eye most affected by this form of retinitis pigmentosa, vectors carrying the corrected gene. The results are currently being analyzed and should be published soon.
Wiskott-Aldrich syndrome
For 10 years, a treatment has been developed for this syndrome which is characterized by hemorrhages, recurrent infections and eczema. The clinical trial began in 2010 at Necker Hospital (Paris) with 10 young patients. The results should be communicated at the beginning of 2015.
Chronic septic granulomatosis
The patients carry a mutation in the gene encoding gp91phox. It causes many infections, which are severe, recurrent and resistant to treatment. An international trial is underway and is expected to include a total of 20 patients. Treatment involves restoring the failed enzyme through gene transfer into hematopoietic (blood-producing) stem cells. The results are expected to be released in 2018.
Fanconi anemia
A clinical trial begins in Spain in 2015 to treat this disease which affects blood stem cells. It is manifested by bone marrow insufficiency, that is to say a rarefaction of the bone marrow. Gene therapy will consist of taking stem cells from bone marrow, processing them in vitro to measure the efficiency of the vectors and their ability to penetrate cells. About ten patients should be included in this phase I study.
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