Résumé :
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No cure is available for Spinal Muscular Atrophy (SMA). Nevertheless soon a number of potential treatments for SMA based on in vitro studies will become available from the pharmaceutical industry, and several attempts are running to establish the efficacy of different compounds to improve function and to slow down clinical deterioration. Considering that the number of potential SMA clinical trial participants is limited there is need for designing multi-center clinical trials at a multinational level, and this represents a "bottleneck" in the evaluation of new SMA treatments. To accomplish multinational trials several actions have to be undertaken. The TREAT-NMD network of excellence has identified SMA as a "flagship disease" to work on accelerating delivering trials for this condition. First of all patient education on clinical trials and collaboration between investigators and patient groups can help to increase the proportion of SMA patients enrolled in clinical trials. Secondly creating databases and data repository with placebo group data elements common across trials can help to reach consensus on clinical history data of SMA harmonizing the design of future trials. Another challenge is to centralize a Co-ordination Center for Clinical Trials in Europe to format all the knowledge on national legal regulations and overcome regulatory affairs in the different countries. In addition, investigators have to reduce fragmentation in the standard of care of patients, and in using the same assortment of outcome measures to reduce biases. Reliable surrogate biomarkers must also be developed in order to monitor response in SMA drug trials when using compounds that predictively increase SMN. TREAT-NMD is also working with EMEA to advise on the specific areas of interest to the regulatory authorities for this rare disorder. In summary, given that there are a number of potential treatments for SMA, and given the relative rarity of the disease and thus the limited patient pool, trial efficiency, timely recruitment and investigator collaboration are important in SMA clinical trials. aUnit of Molecular Medicine, Bambino Gesu' Research Children's Hospital, Rome, Italy; bDivision of Neuropaediatrics and Muscular Disorders, Department of Paediatrics and Adolescent Medicine, University Hospital, Freiburg, Germany; cPediatric Neurology Unit, Catholic University, Rome, Italy; dInstitute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK
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