J. Bellec-Dyèvre, W. Lostal, E. Bernard, J. Cosette, I. Richard

J. Bellec-Dyèvre, W. Lostal, E. Bernard, J. Cosette, I. Richard September 12, 2017

Gene replacement and exon skipping therapies for Duchenne muscular dystrophy (DMD) showed successful improvements in preclinical studies. However, results obtained in recent clinical trials called for the development of new therapeutic strategies that would restore a full-length or nearly full-length dystrophin expression, provide long-term correction and answer challenges regarding body-wide targeting.… Read More...

A. Lattanzi, S. Duguez, A. Moiani, A. Izmiryan, E. Barbon, S. Martin, K. Mamchaoui, V. Mouly, F. Bernardi, F. Mavilio, M. Bovolenta September 12, 2017

Exonic duplications account for 10–15% of all mutations in Duchenne muscular dystrophy (DMD), a severe hereditary neuromuscular disorder. We report a novel CRISPR (Clustered Regularly Interspaced Short Palindromic Repeat)/Cas9-based strategy to correct the most frequent (exon 2) duplication in the DMD gene by targeted deletion, and tested the efficacy of such an approach in patient-derived myogenic cells.… Read More...

J. Hogrel, M. Annoussamy, A. Chabanon, A. Daron, Y. Péréon, C. Cancès, C. Vuillerot, N. Goemans, J. Cuisset, V. Laugel, U. Schara, E. Gargaun, T. Gidaro, A. Seferian, S. Turk, R. Hermosilla, E. Fournier, P. Baudin, P. Carlier, L. Servais, NatHis SMA Study Group September 12, 2017

NatHis-SMA is a prospective multicentre natural history study on spinal muscular atrophy (SMA) type 2 and 3 incorporating a combination of various measurements over 2 years. Among the 81 patients included, 43 patients were aged between 6 and 30 years. Twenty-four patients were SMA Type 2, 9 non-ambulant SMA Type 3 and 10 ambulant SMA Type 3.… Read More...

M. Petkova, C. Laplace-Builhé, A. Goyenvalle, L. Garcia, M. Schuelke, H. Amthor September 12, 2017

Duchenne muscular dystrophy (DMD), the most frequently inherited muscle disease in childhood, is caused by mutations in the gene encoding dystrophin. The modification of dystrophin mRNA splicing, called exon-skipping, is a promising therapeutic strategy. This approach uses small molecules, anti-sense oligonucleotides, that “repair” the open reading frame of the Dmd gene through skipping of exons, which flank the original mutation and lead to the production of truncated dystrophin.… Read More...

E. Gargaun, A. Seferian, G. Quicke, A. Moraux, T. Gidaro, E. Gasnier, A. Daron, Y. Péréon, C. Cances, C. Vuillerot, J. Cuisset, E. Toledano, R. Hermosilla, O. Khwaja, C. Czech, A. Chabanon, M. Annoussamy, D. Vissiere, L. Servais September 12, 2017

Assessment of non-ambulant patients with spinal muscular atrophy is challenging due to the slow and highly variable disease progression. In order to assess drug efficacy in therapeutic trials in this population, developing reliable and sensitive outcome measures focusing on the upper limb is critical.… Read More...

C. Le Guiner, M. McIntyre, T. Larcher, O. Adjali, A. Lafoux, G. Toumaniantz, L. Wood, X. Xiao, P. Moullier, R. Samulski September 12, 2017

We determined the pharmacologically effective dose range of rAAV9-dys3978, a recombinant AAV serotype 9 vector expressing a human mini-dystrophin gene under the control of a muscle-specific promoter, administered intravenously in 2-month old DMDmdx rat. Animals were followed for 3 and 6 months after vector administration.… Read More...

D. Vincent-Genod, J. Coton, P. Rippert, G. Thomann, C. Vuillerot September 12, 2017

Given the progress of research and management in the neuromuscular diseases, particularly in Spinal Muscular Atrophy (SMA), validated tools are needed to assess patients’ motor function. These tools are fundamental in order to improve the understanding of the natural history and to quantify the impact of new therapeutics in these populations.… Read More...

I. Punzón, D. Mauduit, I. Barthélémy, B. Holvoet, N. Blanchard-Gutton, J. Thibaud, P. de Fornel, C. Deroose, J. Vilquin, M. Sampaolesi, S. Blot September 12, 2017

Stem cell therapy is a promising approach for the treatment of degenerative muscular diseases, but current protocols have shown a limited efficiency. Survival and biodistribution of the cells following injection are poorly understood, especially in large animal models. Noninvasive cell monitoring by medical imaging would improve the understanding of the behavior of the cells following transplantation.… Read More...

M. Wencel, N. Araujo, T. Mozaffar, N. Goyal September 12, 2017

ALS and sIBM are neurodegenerative disorders that result in progressive facial, bulbar, respiratory and limb muscle weakness. The leading cause of morbidity and mortality are secondary to bulbar and respiratory insufficiency. Reliable patient reported outcome (PROs) measures are used in both disorders (ALSFRS-R and IBMFRS) that estimate the degree of facial, bulbar and respiratory involvement; however, we lack objective scales that can quantitate disease related deterioration in these functions that would serve as an important prognostic factor.… Read More...

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