Collagen VI Myopathies – Second Roundup
A RECENTLY BORN GROUP WITHIN UILDM IS ALREADY VERY ACTIVE. HERE IS THE REPORT OF THE SECOND MEETING BETWEEN PATIENTS WITH COLLAGEN VI MYOPATHIES AND THE MEDICAL-SCIENTIFIC WORLD On November 1, 2015, the second meeting was held in Bologna between patients with collagen VI myopathies and researchers and doctors who study these pathologies. It was a day full of information and interdisciplinary, in which updates on the progress of scientific research were supported by valuable information on the meaning of establishing an association of patients within UILDM. In his opening speech, the neurologist Luciano Merlini recalled that research, although conducted with rigor and dedication, often reaches important results through initial errors or inaccurate interpretations. This is the case of cyclosporine A, initially used as an immunosuppressant in Duchenne muscular dystrophy, today in collagen diseases it serves to prevent the mitochondria from sending alarm signals to the cell, which would result in the start of the controlled self-destruction program called “apoptosis”. Paolo Bernardi, professor and researcher in biomedicine at the University of Padua, after an exhaustive explanation on the functioning of cyclosporine A, updated the audience on the state of his studies relating to the molecules NIM811 and Debio025. These are two molecules that lack immunosuppressive activity, considered dangerous because it would increase the risk of infections in patients with Bethlem myopathy or Ullrich’s congenital dystrophy under treatment for long periods of time. Both molecules act more effectively than cyclosporine itself on the mitochondria to prevent the initiation of apoptosis in the muscles of patients, as already observed in mouse and zebrafish models with Bethlem myopathy and Ullrich dystrophy. Recently, the pharmaceutical company Debiopharm announced that Debio025 will be made available for an upcoming trial for the treatment of muscle pathologies. The intervention of the biologist Paolo Bonaldo provided an even more complete picture of the research on diseases caused by alteration of collagen VI, with particular reference to the aspects relating to the modulation of autophagy for therapeutic purposes. Indeed, Bonaldo presented data relating to the improvement of some parameters indicative of muscle function in participants in a trial that had the aim of activating autophagy through dietary modulation and, together with his collaborator Martina Chrisam, discussed the best ways to introducing a molecule naturally contained in food, spermidine, or resveratrol, an antioxidant contained in red wine, in the potential therapy of Bethlem myopathy and Ullrich’s dystrophy. Patrizia Sabatelli, Merlini’s collaborator, described her work aimed at understanding the role of collagen VI in tendons, structures that allow muscles to be anchored to bones. Finally, the anesthetist and pain therapist Mariada Perrone presented a report on respiratory insufficiency, illustrating a case in which an increased intake of lipids made it possible to obtain a recovery of severely compromised respiratory function in a patient with Ullrich myopathy. The day was further enriched by the speech of Anna Ambrosini, head of the research programs area of Telethon’s scientific management. Ambrosini recalled Telethon’s commitment to promoting scientific research on muscular dystrophies, illustrated the methods of financing by the Telethon-UILDM tender and conducted an overview of the studies underway in the laboratories financed by Telethon for the development of new therapeutic approaches in animals or cells. This was followed in more detail by the description of the results of Telethon’s investment in research on neuromuscular pathologies and the support for a network of clinical centers that collaborate on collaborative studies that increasingly have international visibility. These studies have made it possible to expand knowledge on the natural history of many muscular dystrophies, to disseminate guidelines on the management and global management of patients and to offer the possibility of building and maintaining specific disease registries , guaranteeing patient privacy and the protection of sensitive data, but at the same time offering clinical researchers a fundamental working tool. With the prospect of starting new clinical trials, the importance of the completeness of the registers was also underlined, so as to speed up the identification of the most suitable patients to participate. As far as people with Bethlem myopathy and Ullrich’s dystrophy are concerned, the reference registry is that of congenital muscular dystrophies (CMD). More information can be found on the Registernmd.it website, on the CMD register page. Also with regard to the subject of registries, Anna Ambrosini illustrated the important role that UILDM had in creating the Association of the Registry, the legal figure representative of patient data, and brought her point of view on how important it is to mass criticism within UILDM to support unity and effectiveness of purpose. In conclusion, in addition to the opportunity to share interesting scientific contributions, the day on collagen diseases was also an opportunity to get to know each other and share experiences, thus promoting the cohesion of a group which, even if born a few months ago, is growing and becoming more and more strong and united. LINK to the original article: Article DM