http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques.phpPress releases.fr-frhttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_4228.php On 5 December at 6:50pm on the France 2 television channel, Julien Clerc, patron of Téléthon 2008 and Thomas, the 8-year old ambassador for patients and their families, will kick off this year's Téléthon live from Paris. What is the Téléthon? It's France pulling together – a vibrant France, as innovative in festivity as in research, a France which stimulates the combat against rare diseases in Europe, a France which believes in the future and is prepared to tackle fate. This year more than ever the Téléthon will be a rendez-vous of festivity, solidarity and combat to change the state of affairs. Together we can take up this exceptional challenge – bringing about the medicine of the future!Thu, 13 Nov 2008 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_4228.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_4190.php A team of researchers led by Anselme Perrier of the Institute of Stem Cells for the Treatment and Study of Monogenic Diseases (Inserm/UEVE UMR861, I-STEM, AFM joint research unit) directed by Marc Peschanski, has just succeeded in performing a first graft of human embryonic stem cells in an animal model for Huntington's disease. The researchers have thus developed a protocol for transforming these cells into the type of neuron specifically affected in Huntinton's disease. Following this, they demonstrated that neural progenitors from embryonic stem cells could differentiate themselves into neurons in rat brains presenting lesions similar to those observed in humans. This work is available online on the PNAS review website. It was in part financed by the AFM (French Muscular Dystrophy Association) thanks to Téléthon donations.  Mon, 20 Oct 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_4190.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_4176.php AFM and Cellectis have announced that on July 24th 2008, the two organizations signed a research and licensing agreement to set up a 5-year program for the development of meganuclease-based genome surgery - an innovative technology that enables the correction of given genetic defects. Meganucleases are enzymes capable of cutting DNA at a very precise point and thus correcting a gene mutation. A healthy gene portion can then be inserted by using the cell's natural repair system. In an initial project phase, the technology will be developed for use on 2 candidate genes: those coding for beta-globin and dystrophin.Fri, 19 Sep 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_4176.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_4142.php Yesterday the board of directors at Genethon nominated a new president to head the laboratory created in 1990 by the AFM (French Muscular Dystrophy Association). Thus Yves Champey succeeds Bernard Barataud, who has decided to hand over the reins after heading the laboratory between 1990 and 1995 and then between 1999 and 2008.   Yves Champey is a physician by training. Genethon will benefit from his international experience with responsibility for the development of new drugs within major pharmaceutical companies such as Pfizer and Rhône-Poulenc Rorer. Also, he contributed to the creation of the Drug for Neglected Diseases Initiative (DNDi) – of which he was president from 2003 to 2007. The DNDi is a foundation dedicated to the research and development of new drugs against neglected parasite diseases affecting poor populations. Finally, with Pierre Tambourin, he has been deeply involved in the development of Genopole® Evry, and is president of the board of directors of the pre-seed fund G1J Ile-de-France.Mon, 07 Jul 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_4142.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_4136.php Five years after the identification of the gene responsible for progeria, a rare disease causing accelerated and premature ageing, a team of Spanish and French researchers (Carlos Lopez-Otin and coll. - University of Oviedo - and Nicolas Lévy and coll. - Inserm/AP-HM, Marseille, France) has successfully demonstrated a treatment for the disease, using mice. This treatment, combining two existing pharmacological molecules, should slow down the progression of this disease which has hitherto remained untreatable. Subject to the authorisation of health agencies, this treatment could very soon be tested on 15 children in Europe. This represents a major advance for the families affected by this disease and – more generally – for the understanding of the normal ageing process.Mon, 30 Jun 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_4136.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_4067.php Since 2000 each International Congress of Myology organised by the AFM has marked a step in the research concerning neuromuscular diseases. This third congress marked that of clinical development – many of the interventions during Myology 2008 were oriented towards therapeutic prospects or presented trials in humans. There is a boom in stem cells, particularly for the heart; gene surgery, which is being enriched by various techniques; as well as pharmacology etc. The time has arrived for treatments and with it, the development of evaluation methods for clinical trials has become of paramount importance. This is why Myology 2008 shared its programme this year with the 5th International Rehabilitation Congress in Neuromuscular Diseases. Through these two congresses the AFM has demonstrated that – from laboratory to patient – now is the time of the turning point towards treatments.Mon, 09 Jun 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_4067.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3906.php Walking, reaching out, jumping, getting up, but also breathing, digesting and eating etc. All these acts demanded of our bodies in order that they function correctly are possible thanks to the some 500 muscles that make them up, and which represent 40% of our body weight. While fundamental knowledge about the muscle continues to grow, clinical research is also making great strides. It is in this context – as the turning point towards treatment is getting under way with about forty clinical trials ongoing or in preparation – that the AFM is organising its third international scientific congress devoted to myology from 26 to 30 May in Marseille. > Access the complete press kit (10 pages -  Mo) > Access Myology2008 websiteMon, 19 May 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3906.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3881.php € 102 315 233 : this is the final result of Téléthon 2007, organised on 7 and 8 December by the Association Française contre les Myopathies (AFM) and France Télévisions, with the support of the regional stations of the Radio France Group. Although after thirty hours of programming the counter of donations promised stood at € 96 228 136, the final figure came to over 6% more than that. Mon, 14 Apr 2008 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3881.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3822.php A research team led by Dr Isabelle Richard (CNRS-FRE3087) from the Généthon laboratory financed by the AFM through Téléthon donations has just demonstrated the efficacy of a novel pharmacological strategy in the mouse for certain mutations of alpha-sarcoglycanopathy or LGMD2D, a recessive limb girdle dystrophy. This pharmacological strategy could be applied to other limb girdle muscular dystrophies characterised by the same type of genetic mutation. This work is published online in the review Human Molecular Genetics.Mon, 18 Feb 2008 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3822.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3766.php In May 2008 the AFM is organising two international scientific and medical congresses on neuromuscular diseases at the Parc Chanot in Marseille. From 26 to 30 May 2008, Myology 2008, the international congress of myology experts, presided by Thomas Voit, a neuropaediatrician, specialist in diseases of the muscle and medical and scientific director of the Myology Institute in Paris. On 30, 31 May and 1 June 2008, the Fifth International Congress of Rehabilitation in Neuromuscular Diseases, presided by Vincent Gauthron, rehabilitation physician at the Saint-Etienne University Hospital.Thu, 17 Jan 2008 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3766.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3763.php With the support of the AFM through Téléthon donations, the first ever phase I clinical trial (for feasibility and tolerance) based on the exon-skipping technique has been successfully carried out on children affected with Duchenne myopathy in the Netherlands. Conducted by the biotechnology company Prosensa in collaboration with the Leiden University Medical Centre, this trial used antisense oligonucleotides – small pieces of laboratory-synthesised DNA – placed on the pre-messenger RNA during its conversion to messenger RNA. Thus placed, the genetic mutation is shielded in the messenger RNA so as to allow production of the missing protein. These results were published today in the American scientific review New England Journal of Medicine.Mon, 07 Jan 2008 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3763.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3755.php Can muscle stem cells from muscular dystrophy sufferers be corrected in a sustained fashion, and ultimately "cured"?  Using a gene therapy technique, "exon skipping" , a Franco-Italian research team coordinated by CNRS researcher Luis Garcia  and Yvan Torrente  has achieved this.  These researchers have, for the first time, restored the functionality of human dystrophin, the protein that is missing in a setting of Duchenne muscular dystrophy, which is the most common of the neuromuscular diseases.  They then transplanted these "corrected" human cells into mouse models of this disease in order to test their efficacy, and the muscle performance of these animals was seen to be improved.  Published on December 13, 2007 in the journal Cell Stem Cell, this work received partial support from the Généthon, the laboratory set up and funded by the AFM thanks to donations to the Téléthon.   It constitutes a step forward in autologous cell therapy using the patient's own "rehabilitated" cells. Tue, 18 Dec 2007 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3755.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3741.php On behalf of patients and their families, the AFM would like to express its deepest gratitude to all those who once again have given it their support. Despite difficult weather conditions, the French people did not fail to mobilise. At a time when innovative therapies are undergoing their first trials on humans, the AFM is more than ever determined in its combat against disease. Though substantial, the income from this 21st Téléthon, could nevertheless slow down the development of treatments.Tue, 11 Dec 2007 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3741.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3708.php Trophos, a biopharmaceutical company based in Marseille and specialising in neurological disorders, has begun a phase 1b clinical trial on 20 patients affected with spinal amyotrophy, a rare neuromuscular disease of genetic origin. The trial, conducted at Garches, Marseille and Lille, will assess the tolerance as well as the speed of absorption and elimination of a new molecule (TRO19622), already successfully tested on both healthy volunteers and amyotrophic lateral sclerosis patients. This innovative molecule has been granted ‘orphan medicinal product' status by the European Commission.   Thanks to Téléthon donations, over the last 7 years Trophos has been receiving decisive financial support for this project from the AFM. And now, barely four years after the identification of a candidate molecule, a clinical trial in humans is under way. Once again this shows how a patient association can play a leading role in promoting drug development.Thu, 11 Oct 2007 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3708.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3688.php A team of researchers from the IGCMB  at Illkirch, directed by Jocelyn Laporte and Jean-Louis Mandel has identified a gene mutation responsible for a congenital myopathy: the autosomal recessive form of centronuclear myopathy. This discovery opens the way to progress in the understanding of the pathological mechanism common to the different forms of this type of myopathy. The identification of the gene responsible for a disease is also the first essential step to the setting up of possible therapeutic strategies. For patients, this discovery means the possibility of a precise diagnosis, and prenatal diagnosis for couples at risk. Published today on the Internet site of the review Nature Genetics, this work was carried out at the IGGMB research centre of the CNRS, Inserm and Louis Pasteur University. It was supported by National Research Agency contracts and by the AFM thanks to Téléthon donations.Mon, 13 Aug 2007 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3688.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3687.php A team of researcher-clinicians coordinated by Professor Denis Duboc (Cochin Hospital, AP-HP, René Descartes University Paris V) and Doctor Henri-Marc Bécane (Myology Institute, AFM) have published the results of a study into the 10-year follow-up of children affected with Duchenne myopathy treated with perindopril. The study shows a significant reduction of mortality in these children. Moreover, the results seem to underline perindopril's overall role of protector, particularly of the muscle function.    Supported by the AFM thanks to Téléthon donations, this work is published in the American Heart Journal. It integrates into the AFM-backed clinical research activities for better patient management as well as research for the development of innovative therapies.Mon, 13 Aug 2007 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3687.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3667.php AFM concerned about the future of its financing On 28 June at Evry the AFM (Association française contre les myopathies) brought together nearly 80 young researchers who presented the work they had carried out thanks to the Association's support. Since 1988 the AFM has financed more than 1300 young researchers through study grants, 306 of which have been in the form of fixed-term contracts managed by the main research organisations and universities. During the symposium the Association took the opportunity to point out the fragility of the present system of financing these young researchers who nevertheless represent the future of French research.Mon, 09 Jul 2007 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3667.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3666.php Stem cells represent a therapeutic hope for numerous pathologies, and this is particularly true for cases of heart failure. With the use of stem cells, the damaged tissue of the heart could be regenerated. Inserm's AVENIR team led by Michel Pucéat (Inserm Unit 861: I-stem ) is one of the first French teams to have been authorised to work on human embryonic stem cells. In collaboration with Philippe Menasché, cardiac surgeon at the Georges Pompidou European Hospital (AP-HP, Paris 5 University) and director of the “Cell therapy in cardiovascular pathology” Inserm Unit 633, Michel Pucéat's team has just demonstrated for the first time that human embryonic stem cells can differentiate themselves into cardiac cells in the failing hearts of rats.   This work was carried out at the I-Stem laboratory, led by Marc Peschanski. It is the result of a partnership between the Association Française contre les Myopathies (AFM), Inserm, Génopole and the University of Evry, and is published by the review Stem Cells.Mon, 09 Jul 2007 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3666.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3601.php A team of researchers from the “Medical Genetic Clinic and Research Unit” Inserm Unit 781 directed by Arnold Munnich (Necker-Sick Children's Hospital, Paris) in collaboration with Ioav Cabantchik (Hebrew University, Jerusalem) have just obtained promising results for the treatment of neurological damage from Friedrich Ataxia, the most frequent of hereditary ataxias. Movement coordination, speech as well as certain sensory disorders were improved under the effect of deferiprone, a molecule which traps the iron accumulated abnormally in certain regions of the brain.These positive results, obtained right from phase I/II of the trail, offer short term therapeutic prospects for this severely disabling disease. This work was carried out at Inserm Unit 781 and financed by the AFM thanks to Téléthon donations. It can be consulted on the Internet site of the review “Blood.”Wed, 16 May 2007 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3601.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3595.php A team of clinicians at the Institute of Myology in Paris has published the results of a study on the – hitherto little-explored – cognitive profile of children affected with Steinert disease. This work has led to a deeper knowledge of the neuropsychological profile of the children affected, and in the long term will pave the way for an improvement in their management, especially within the framework of school learning. This work was financed by the AFM thanks to Téléthon donations. It can be consulted on the Internet site of the review Neuromuscular Disorders.Mon, 07 May 2007 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3595.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3589.php 106 696 532 euros: that's the final result of the 20th Téléthon on 8 and 9 December 2006. Organised by the Association Française contre les Myopathies (AFM) and France Télévisions, it was supported by the Radio France Group which devoted about a hundred hours of airtime to this great event.Tue, 24 Apr 2007 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3589.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3581.php A team of researchers in Marseille led by Prof Nicolas Lévy (UMR 491 Inserm-Université de la Méditerranée « Medical genetics and development ») has just identified the gene responsible for type CMT4H of Charcot-Marie-Tooth Disease. The identification of the gene took place in 2005, after the team had localised it on chromosome 12. This discovery will advance the knowledge and diagnosis of this rare disease as well as that of hereditary sensory and motor peripheral neuropathies.Partly financed by the AFM thanks to Téléthon donations, this work can be consulted on the Internet site of the review The American Journal of Human Genetics.Mon, 02 Apr 2007 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3581.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3514.php   The world's leading muscular dystrophy organizations have launched a historic coalition that will pool knowledge and resources in an attempt to accelerate development of promising treatments and a cure for the most common childhood form of the disease.Fri, 26 Jan 2007 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3514.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3510.php The first meeting of Treat-NMD, the European network of excellence, will take place at the Génocentre at Evry on 18 and 19 January. Created at the instigation of the AFM and Eurodis, this network of excellence brings together 2000 physicians and scientists from 11 European countries. This meeting should lead to speeding up the development of treatments for neuromuscular diseases. Coordinated by two researchers from the University of Newcastle (Kate Bushby and Volker Straub), the network is in particular financed by the European Community.Wed, 17 Jan 2007 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3510.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3505.php Using gene therapy, a team of Généthon researchers has succeeded in improving the muscle strength of mice deficient in alpha-sarcoglycan. The team, headed by Isabelle Richard (Généthon CNRS-FRE 3018), used an AAV vector composed of a muscle-specific promoter. These results are all the more encouraging since a general improvement of the animals' strength was observed even though only the hind legs had been treated.  These results come one year after the success (in mice) of gene therapy for another limb-girdle dystrophy, calpainopathy, within the framework of preclinical work carried out by the same team. Financed by the AFM thanks to Téléthon donations, these results are published on the Internet site of the review Molecular Therapy.Fri, 22 Dec 2006 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3505.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3496.php Today Généthon announced that it has obtained a grant of about 20 million euros over ten years from the Industrial Innovation Agency (IIA) within the framework of the DANA (“Diagnostic Advances for New therapeutic Approaches”) project. This specific grant to Généthon is divided into subsidies totalling 14.4 million euros and 5.9 million euros repayable in case of success. Payment will be by instalments and is conditional on the approval of the European authorities, whose decision is expected during the second quarter of 2007. The DANA programme is coordinated by Mérieux Alliance, associated with four partners: bioMérieux, Généthon, Genosafe and Transgène. Its aim is to take up the challenge of personalised medicine by developing new diagnostic and therapeutic approaches in the fields of rare genetic diseases, cancer and infectious diseases.Thu, 30 Nov 2006 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3496.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3492.php A team of Italian researchers led by Michele De Luca (University of Modena and The Veneto Eye Bank Foundation) and financed by the French and Italian Téléthons in the framework of a joint call for tender has – for the first time – succeeded in treating by gene therapy a patient affected with a serious genetic skin disease, junctional epidermolysis bullosa. In this disease, deficiency of the laminin 5 gene is expressed by an absence of dermal-epidermal adherence. By the transplant of skin stem cells treated by gene therapy and expressing laminin 5, the researchers were able to reconstitute an epidermis which adhered to the dermis on two chronic blisters situated on the thighs. This was observed from the 8th day and during the twelve months of follow-up. This pilot trial in a first patient should lead to the setting up of a clinical trial for the same disease in France in the near future. These results have been published today on the Internet site of the review Nature Medicine.Tue, 28 Nov 2006 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3492.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3491.php Généthon, the French biotherapy laboratory financed by Téléthon donations, is starting its first gene therapy trial in humans for gamma-sarcoglycanopathy, a neuromuscular disease. It has just obtained authorisation from Afssaps (the French Health Products Safety Agency) as well as the opinion of the CPP (Research Ethics Committee). This phase 1 trial will take place at the Pitié-Salpêtrière Hospital (Paris) under the responsibility of the principal investigator, Professor Serge Herson and in collaboration with the Institute of Myology. It will consist of testing the injection of a gamma-sarcoglycan gene-carrying AAV vector – liberated by Généthon's Gene and Cell Therapy Establishment – in order to verify its harmlessness and tolerance in volunteer patients. However, no prediction of therapeutic benefit will be made at this stage of development. Nine patients will take part, the first of whom will be treated before the end of the year. Généthon is the promoter of this trial.Mon, 27 Nov 2006 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3491.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3489.php A group of Italian and French researchers from the San Raffaele Institute in Milan, in collaboration with the University of Pavia and the Veterinary School of Alfort have just demonstrated the effectiveness of cell therapy in dog models of Duchenne muscular dystrophyThe researchers injected stem cells normally associated with blood vessels - mesoangioblasts – into the general circulation of the animals. These cells were converted into muscle cells thus leading to an improvement in the dogs' muscle function.This work, published on the Internet site of the review Nature, was notably financed by the AFM thanks to both French and Italian Téléthon donations. > Download the press release - Wed, 22 Nov 2006 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3489.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3482.php Twenty years after the birth of the project and ten years after its opening, there is a fresh impetus at the Institute of Myology. It is taking on new researchers and physicians as well as integrating new laboratories and equipment – making it today Europe's most comprehensive centre of expertise for the muscle. To mark this occasion, on 23 October 2006 the Institute received the visit of Xavier Bertrand, the Secretary of State for Health and Solidarity. Mon, 06 Nov 2006 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3482.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3465.php A team of French researchers has succeeded in restoring the vision of dogs affected by Leber's Congenital Amaurosis, a genetic disease of the retina. The team in Nantes, coordinated by Fabienne Rolling – research director of the “viral vectors and in vivo gene transfer” Inserm Unit 649 – used an innovative gene therapy technique which was both safer and more precise than those used hitherto. She had recourse to an AAV (adeno-associated virus) category of vectors which target exactly those cells of the retina at the origin of the visual dysfunction and limit the risk of complications. This work opens the way to the setting up of clinical trials in humans.Partly financed by the AFM from Téléthon donations, this work is published today on the Internet site of the review Gene Therapy.Thu, 05 Oct 2006 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3465.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3309.php Correction of enzyme deficiency in the brain of dog models A team of researchers coordinated by Jean-Michel Heard (Pasteur Institute/Inserm Unit 622) has just demonstrated the feasibility and effectiveness of gene therapy by gene transfer on a dog model of Hurler's syndrome. Using an AAV-type vector, the researchers were able to correct the enzyme defect in almost all the brain and obtain the disappearance of the anatomical lesions characteristic of the disease. Published in the review Annals of Neurology of May 2006, this work is the product of a Pasteur Institute-AFM joint programme, and was partly financed by Téléthon donations. Thu, 06 Jul 2006 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3309.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3290.php 104 078 464 euros : that's the total of the donations finally collected during Téléthon 2005, organised by the Association Française contre les Myopathies (AFM) and the television channel France 2, with the support of the Radio France Group. Thanks to the generosity of donors, the promise displayed on the counter at the end of 30 hours of live transmission on France 2 (99 044 125 euros) was fulfilled by 105%. Strengthened by this renewed confidence from its donors, the AFM will be able to pursue its combat to heal neuromuscular disorders and benefit so many genetic, rare and incurable diseases.Tue, 30 May 2006 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3290.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3308.php An international consortium directed by Frederick Kaplan and Eileen Shore (University Hospital of Pennsylvania, Philadelphia, USA) in collaboration with two French physicians – Martine Le Merrer (Inserm Unit 393 “genetic disabilities in children” Hôpital Necker, Paris) and J. Andoni Urtizberea (Hôpital Marin d'Hendaye – Paris Hospital Authority, and the European Neuro Muscular Centre (ENMC), Netherlands), has identified the gene responsible for fibrodysplasia ossificans progressiva (FOP), more commonly known as ‘stone man syndrome'. This extremely rare muscular disease is characterised by progressive ossification of muscles, tendons and ligaments, leading to paralysis. An important fact which could limit diagnostic error is that the same genetic mutation is present in sporadic cases as in the very rare familial cases of the disease. The gene in question, ACVR1, is involved in the process of bone formation. This work was financed by the AFM thanks to Téléthon donations and has just been published on the Internet site of the review Nature GeneticsWed, 05 Jul 2006 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3308.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3289.php A team of French and Spanish researchers and clinicians coordinated by Nicolas Lévy (Inserm Unit 491 “Medical Genetics and Development” – La Timone Hospital, Marseille) and J. Andoni Urtizberea (Hospital Authority, Paris and the Marine Hospital, Hendaye) has just highlighted mutations of the calpain gene (CAPN3)  in persons affected with eosinophilic myositis, a rare inflammatory disease. As well as demonstrating for the first time that this disease can be of genetic origin, this work will contribute to refining its diagnosis. As the mutation of the same gene is responsible for a form of myopathy known as calpainopathy, the researchers are questioning whether eosinophilic myositis with calpain mutation represents the clinical onset of calpainopathy. Financed notably by the AFM thanks to Téléthon donations, this work is published today on the Internet site of the Annals of Neurology review.Tue, 30 May 2006 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3289.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3180.phpA team of researchers coordinated by Denis Duboc (Cochin Hospital – Paris,René Descartes University Paris V) has just demonstrated the benefits of thepreventive implantation of a cardiac defibrillator for patients affected withlaminopathies, rare diseases of genetic origin that can cause sudden deathfollowing a cardiac rhythm disorder. These results show how – by the precisionof the molecular diagnosis – progress made in genetics can benefit rare diseasesby using the technological innovations originally developed for commonaffections such as myocardial infarction.This work was particularly supported by the AFM thanks to Téléthon donationsand was published today in The New England Journal of Medicine. It is in linewith the AFM's initiatives in pursuit of better patient management – initiativeswhich have led to a significant lengthening of the duration of life in manyneuromuscular diseases.Tue, 17 Jan 2006 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3180.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3324.php Evry/Paris, 7 December 2005. Under the direction of Dr Isabelle Richard, Généthon has launched a large programme for the mapping and interactions of muscle cell proteins. Following the era of genomics and the deciphering of the human genome, the challenge today is to understand the functions and interactions of the proteins within the cells. Financed by the AFM through Téléthon donations up to 894 000 Euros in the framework of the “Proteic interactions in muscle physiopathology” call for tender launched in 2005, this programme will contribute to our fundamental understanding of the muscle and the development of new therapeutic paths. It is based on the cutting-edge technological tools developed by the biotechnology company Hybrigenics. Mon, 24 Jul 2006 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3324.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3158.phpA team of researchers from Généthon (CNRS UMR 8115) led by Isabelle Richardhas demonstrated on a mouse model the feasibility and efficacy of a gene therapyby gene transfer for limb-girdle muscular dystrophy type 2A, also known asCalpainopathy. The researchers used an AAV-type vector and obtained a strong andstable protein expression in the muscle cells as well as a correction of themuscular atrophy and an increase in the muscle strength and mass.This work was published in the review Molecular Therapy. It was carried outthanks to the Téléthon donations which finance the Généthon laboratory, createdby the AFM.Tue, 29 Nov 2005 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3158.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3118.phpA team of researchers from the Institute of Myology led by Marc Bitoun andNorma Romero under the direction of Pascale Guicheney (Inserm Unit 582“Physiopathology and therapy of the striated muscle”) has identified, onchromosome 19, the gene responsible for a congenital myopathy – the autosomaldominant form of centronuclear myopathy.For affected individuals, this discovery will help with establishing aprecise diagnosis and for at-risk couples, a prenatal diagnosis in cases ofplanned pregnancy. The identification of the gene responsible for a disease isthe first indispensable step in the understanding of the dysfunctions linked tothe disease and the setting up of possible therapeutic strategies.This work will be published in the review Nature Genetics in November. It wascarried out at the Institute of Myology, situated in Paris within thePitié-Salpêtrière Hospital Group. The Institute was created and financed by theAFM thanks to Téléthon donations.  Tue, 25 Oct 2005 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3118.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3117.phpLiestal, Switzerland, October 19, 2005 -- Santhera Pharmaceuticals AG(“Santhera”) of Switzerland announced today that it has started a Phase IIaclinical study with its lead product SNT-MC17 (idebenone) to evaluate itsbenefits in the treatment of Duchenne muscular dystrophy (DMD). DMD is the mostcommon and devastating type of muscular dystrophy, causing weakness and musclewasting in young boys for which there is no cure or effective treatment. This isa new potential indication for Santhera's SNT-MC17 (idebenone), which isexpected to enter Phase III clinical trials in Europe later this year forFriedreich's Ataxia, another life-threatening neuromuscular disease.Mon, 24 Oct 2005 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3117.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3007.phpResearchers from the Institut Pasteur and the CNRS have succeeded inisolating muscle stem cells displaying a high potential for muscle repair. Thesecells, which correspond to satellite cells, were, until now, inaccessible intheir native state. Twenty thousand muscle stem/satellite cells were sufficientto promote significant muscle repair in mice, whereas one million culturedmuscle precursor cells were required in previous assays. This work, published onSeptember 1st in Science provides important new insights into adult muscle stemcells and sheds new light on the potential of such cells for the cell therapy ofmuscular defects. Wed, 28 Sep 2005 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_3007.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_2089.phpSanthera's Calpain/Proteasome Inhibitors Show Significant Improvementof Muscle Histology in Animal Model for Duchenne Muscular DystrophyLIESTAL, Switzerland-May 5, 2005-Santhera Pharmaceuticals AG announced todaythat data from recent studies of the company's lead compounds for the treatmentof Duchenne Muscular Dystrophy (DMD), will be presented by Dr. Thomas Meier,CSO, on Friday, May 13, at 4PM at the International Myology Congress held inNantes, France, organized by the French Muscular Dystrophy Association (AFM,Association Française contre les Myopathies).Thu, 19 May 2005 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_2089.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_2067.phpUnderstanding the muscle and curing its  diseases : the era oftrials in manMoving, reaching out a hand, walking, jumping, getting up – but alsobreathing, digesting and eating – all these daily gestures that we ask our bodyto perform in order to function correctly depend on its 500 or so muscles. Andthese represent 40% of our body weight. To take stock of our present state ofknowledge of the muscle and its diseases, the AFM is organising its secondcongress devoted to myology, in Nantes from 9 to 13 May. In recent years,myology has become one of the world's “beacon disciplines” of clinicalresearch.   Mon, 09 May 2005 12:00:00 +0200http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_2067.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1951.phpA team of researchers at Généthon, the laboratory created and financed by theAssociation Française contre les Myopathies (AFM) thanks to the French Téléthondonations, has succeeded in repairing the muscles of mouse models of Duchennemuscular dystrophy thanks to a gene therapy called ‘exon skipping'. The exonskip occurs during the intermediate phase between the gene and the protein atthe moment of splicing, and allows production of a truncated but functionalprotein to be restored. This advance illustrates the progress made in genetherapy techniques over the last ten years. By now, these techniques have becomevery sophisticated and, by intervening directly on the message of the gene, theyopen new therapeutic prospects for genetic diseases.This work was carriedout by a Généthon team led by Olivier Danos and Luis Garcia (CNRS UMR 8115) incollaboration with researchers at the Cochin Institute in Paris. It is publishedtoday by the magazine Science in its online edition ScienceExpress.   Tue, 18 Jan 2005 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1951.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1950.phpThe major histocompatibility complex HLA (Human Leukocyte Antigens) plays acentral role in the functioning of the immune system, in particular duringtransplant rejection. It also intervenes in the predisposition to certaindiseases, particularly autoimmune diseases. In studying myasthenia, anautoimmune disease that affects the muscles, the team from Inserm Unit 580 underHenri-Jean Garchon demonstrated the major role of class III region genes in theoccurrence of the disease. Moreover, for the first time the influence of the HLAcomplex on the production of antibodies has been demonstrated.This work,published in the PNAS and financially supported by the AFM thanks to Téléthondonations, should lead to a better understanding of the role of the HLA complexin the susceptibility to autoimmune diseases and the antibody response.Theextract is accessible online.   Tue, 18 Jan 2005 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1950.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1949.php  Two teams from the Pasteur Institute associated with theCNRS have called into question a 10-year old dogma by showing that three geneticfactors, rather than two as was generally thought, are determinant for muscleidentity from stem cells. This work was published in Nature on 23 September 2004and has altered our perception of muscle stem cell determination as well as theacquisition of cell identity in general. In the medium term, by improvingknowledge of the mechanics which determine the evolution of stem cells intomuscles, this work will lead to important advances towards the gene and celltherapy for myopathies. This work was supported by a financial contribution fromthe AFM, thanks to Téléthon donations.Tue, 18 Jan 2005 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1949.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1948.phpResearchers at the Inserm team 217 “Gene transfer for therapeutic purposes instem cells” in Bordeaux, directed by Hubert de Verneuil have used an ingenioussystem of gene therapy. Gene transfer in diseased mice, coupled with a processof positive selection of genetically modified cells, has allowed deficientfunctions in mice affected with a haematological disease to be restored. Thework published online today on the site of the review Gene Therapy shows that itis possible to treat a genetic disease by a gene therapy associated withpositive selection. This work was financially supported by the AFM thanks toTéléthon donations.   Tue, 18 Jan 2005 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1948.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1947.phpA team of researchers (from CNRS-Inserm-Paris VI-Université Louis Pasteur)led by José-Alain Sahel and Thierry Léveillard (Inserm Paris VI unit:“Laboratory of Cellular and Molecular Pathophysiology of the Retina”) hasidentified a novel protein necessary for the survival of certain photoreceptorsthat are essential for central, acute vision. This breakthrough is the result ofan innovative functional genomics strategy followed for over 6 years, comprisingthe screening of 200,000 proteins. It opens up therapeutic perspectives fordisorders associated with cell degeneration, such as retinal degenerations.There is at present no treatment for these disorders, which lead to blindness.The details of this research, carried out in close collaboration with NovartisOphthalmics and the Novartis Institutes for Biomedical Research and includingsupport from the AFM Telethon donation, will be published in the July issue ofNature Genetics .   Tue, 18 Jan 2005 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1947.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1945.phpThis post-graduate course is open for enrollments until 8th November 2004,deadline.The French Inter-University Diploma (DIU) in Myology course2004-2005 is now open for enrollments. Since its creation in 1996, this diplomahas had a lot of success with health professionals. It is open to French andforeign medical doctors, to medical students, to interns who have validated the2nd cycle of their medical studies, to qualified physiotherapists, and tobiologists holding a Master'sdegree.    Tue, 18 Jan 2005 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1945.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1944.phpAfter two years of working in common, the Alliance Maladies Rares , theGIS-Institut des maladies rares , les Entreprises du Médicament , Orphanet andInserm have announced today the creation of two major programs for rare diseasesresearch and treatment. These European initiatives are totally novel initiativeson the current international scene.    Tue, 18 Jan 2005 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1944.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1943.phpAFM is pleased about the authorisation granted by the AFSSAPS (French HealthProducts Safety Agency) to resume the gene therapy clinical trial for X-linkedsevere combined immuno deficiency, a trial which had been conducted by Prof.Alain Fischer's and Marina Cavazzana-Calvo 's groups since 1999.   Tue, 18 Jan 2005 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1943.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1952.phpThis new method could be used to deliver the dystrophin gene to muscle in theframework of the Phase I/II clinical trial for Duchenne and Becker musculardystrophies, prepared by the French Transgene biotech (Strasbourg), incollaboration with AFM.    Tue, 18 Jan 2005 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1952.phphttp://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1953.phpMichel Fontés, director of the « Medical Genetics and Development » Insermunit 491, Marseille, and his colleagues have demonstrated - on a mouse model -that ascorbic acid (better known as Vitamin C) could provide clinical benefitsin the treatment of a particular form of Charcot-marie-Tooth (CMT) disease. Thisdisease is characterised by nerve damage (neuropathy) and progressive muscularatrophy. By administering large doses of ascorbic acid to CMT mice, researchersobtained a significant improvement in their condition and lifespan. The resultsof this study, the details of which can be found in an article of the Aprilissue of Nature Medicine, was supported by AFM (Association Française contre lesMyopathies) with proceeds from their Telethon.   Tue, 18 Jan 2005 11:00:00 +0100http://www.institut-myologie.org/anglais/ewb_pages/a/actu_communiques_1953.php