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...

G. Wynne, A. Vuorinen, E. Emer, D. Conole, M. Chatzopoulou, S. Davies, A. Russell, S. Guiraud, S. Squire, A. Berg, B. Edwards, S. Hemming, T. Kennedy, L. Moir, K. Davies, S. Harriman, J. Tinsley, F. Wilson September 12, 2017

Duchenne muscular dystrophy (DMD) is a devastating, X-linked muscle-wasting disease caused by lack of the cytoskeletal protein dystrophin. There is currently no cure for DMD, although various promising approaches (e.g. exon skipping, read through of stop codons, gene therapy) are being developed.… Read More...

T. Sato, M. Adachi, K. Nakamura, M. Zushi, K. Goto, T. Murakami, K. Ishiguro, M. Shichiji, K. Saito, T. Ikai, M. Osawa, I. Kondo, S. Nagata, K. Ishigaki September 12, 2017

Fukuyama congenital muscular dystrophy (FCMD) is the second most common muscular dystrophy in Japan. FCMD is an autosomal recessive disorder caused by mutations in the fukutin gene. The main features of FCMD are a combination of infantile-onset hypotonia, generalized muscle weakness, eye abnormalities, and mental retardation associated with cortical migration defects, and most patients are never able to walk.… Read More...

A. Hick, I. Prokic, F. Bousson, C. Fugier, B. Gobert, M. Hestin, E. Riguet, T. Cherrier, J. Chal, O. Pourquie, M. Guyot, J. Bonnefoy September 12, 2017

Duchenne muscular dystrophy (DMD) is the most common type of muscular dystrophy. DMD is a very severe disorder presenting with rapidly progressing muscle wasting and premature death. No current treatment is available and drugs improving the course of the disease are limited and with various side effects.… Read More...

T. Murakami, K. Ishigai, K. Ishiguro, T. Sato, M. Shichiji, M. Ikeda, S. Nagata, T. Uchida, S. Kuru, T. Nakayama September 12, 2017

It was reported that gene therapy can provide a possible basis for the treatment of patients with FCMD. There is now a greater need for safe, non-invasive techniques for assessment of skeletal muscle volume in FCDM patients. We showed the efficacy of muscle volumetry using Bioelectric Impedance Analysis (BIA).… Read More...

C. Wingate, G. Pinniger, P. Arthur, A. Bakker, K. Nowak September 12, 2017

Duchenne muscular dystrophy (DMD) is a debilitating X-linked disease caused by mutations in the gene encoding the protein dystrophin. The lack of dystrophin leads to progressive skeletal muscle damage and wasting, which significantly decreases locomotory ability. DMD ultimately results in death from respiratory or cardiac failure, as no cure is currently available.… Read More...

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