As rare diseases benefit from the first innovative treatments, Laurence Tiennot-Herment, President of the AFM-Telethon, recalls the challenge of the coming years: "To be the first consistent non-profit stakeholder in the world of medicine.”
An objective that is in line with the projects that have been implemented since the first Telethon in 1987. "Our strategy (in French) has always been to encourage the concentration of resources to achieve our goal: cure. Thanks to this strategy, we accomplished the first maps of the human genome (in French), contributed to the identification of hundreds of genes for genetic diseases (in French), brought gene therapy to the foreground... All this while privileging innovation, which is in fact the audacity of those who have nothing to lose.”
Marc Peschanski, Director of I-Stem, a stem cell laboratory co-founded by the AFM-Telethon, announced the beginning of the first cell therapy trial for drepanocytic ulcers at the end of 2013. "It took three years to adapt the results that we obtained in the laboratory to the clinic, i.e. reconstruct human skin from embryonic stem cells. With this trial, we are aiming to heal the skin, for this very disabling symptom of sickle cell anaemia.”
Guylène Lemeur (Nantes University Hospital (CHU)) gave an update on the gene therapy trial in progress (in French) for a rare retinal degeneration disorder, Leber's congenital amaurosis. “The first six patients aged 20 to 42 years have been operated on. A year after having treated the first patient, we are already observing good tolerability. In terms of efficacy, it appears that the majority of patients are experiencing a benefit.
José-Alain Sahel, Director of the Institute of Vision in Paris, announced the launch of a gene therapy trial in 2013 for another vision disorder: Leber's hereditary optic neuropathy. This project that is co-led by the Institute of Vision and Genethon, will be conducted in 9 patients treated with three different doses of medicine vectors. This will be the first gene therapy trial for a mitochondrial disease.
Bioproduction, a technological leap
Frédéric Revah, Managing Director of Genethon returned to the challenge of producing gene therapy treatments identified by Genethon Bioprod. A particular method that requires a change of scale and the development of new processes. “We have developed a new method for Duchenne muscular dystrophy that allows to produce gene therapy treatments to treat 100 patients in 6 weeks, whereas before 3 years’ work was necessary to produce treatments for a single patient.”
Long term success
Pioneer of gene therapy in France, Alain Fischer, Professor at the Necker Hospital, recalled that “the success of the first gene therapy trial for bubble babies (in French) is confirmed. Twelve years later, the treated children are doing well.”
The trials continue, with one for Wiskott-Aldrich syndrome in progress (in French) and one scheduled for 2013 for a new form of immunodeficiency. “We have proven expertise from Genethon in the production of gene therapy treatments. We are moving towards a progressive extension of gene therapy for inherited immunodeficiencies.”
The year 2013 promises to be another landmark year for innovative therapies for rare diseases, thanks to the exceptional mobilisation of the Telethon.
All the researchers present recalled how much the Telethon donations are valuable to them to carry out their trials. So, on December 7th and 8th be by their sides, let’s take up the challenge as well and give them the means to succeed!
Photo : AFM-Telethon/Cyrille Bernard. In this photo (from right to left : José-Alain Sahel, Laurence Tiennot-Herment, Frédéric Revah, Guylène Lemeur, Marc Peschanski).