E. Bush, C. Ward, T. Suchyna, F. Sacks, M. Blaustein, D. Escolar September 12, 2017

AT-300 is a peptide, a new class of drugs that selectively modulate mechanosensitive cation channels. These channels are involved in disease progression in DMD and murine models. The objective of these investigations was to determine AT-300 1)PK in mouse muscle and 2) acute and 6 weeks in vivo efficacy in the D2-mdx.… Read More...

M. James, M. Jacobs, A. Mayhew, J. Feng, S. Spuler, J. Day, K. Jones, D. Bharucha-Goebel, E. Salort-Campana, A. Pestronk, M. Walter, C. Paradas, T. Stojkovic, M. Mori-Yoshimura, E. Bravver, J. Diaz- Manera, E. Pegoraro, J. Mendell, K. Bushby, V. Straub September 12, 2017

We report on longitudinal functional over the first two years of the 3-year Clinical Outcome Study of Dysferlinopathy. The Clinical outcome study is an international study evaluating patients with genetically confirmed dysferlinopathy with the intention of improving trial readiness in dysferlinopathy.… Read More...

L. Tasaki, R. Ishiba, D. Ayub-Guerrieri, C. Almeida, S. Fernandes, A. Ribeiro, L. Galleni, L. Souza, A. Santos, M. Vainzof September 12, 2017

Osteopontin (OPN) is involved in both physiological and pathological processes, including tissue repair, inflammation and fibrosis. The expression of OPN is rapidly induced in response to muscle injury, with its known effects on myogenic and inflammatory cells. Among those, macrophages are involved in both phases of skeletal muscle regeneration: first in inflammation and cleansing of necrosis, and second, in myogenic differentiation and tissue repair.… Read More...

K. Knak, L. Andersen, L. Markvardsen September 12, 2017

Chronic inflammatory demyelinating polyneuropathy (CIDP) is a sensomotoric disorder with proximal and distal muscle weakness in upper and lower extremities. Grip strength measures muscle strength in the distal upper extremities and is a commonly used outcome measure in patients with CIDP.… Read More...

H. Gonorazky, S. Naumenko, K. Ohri, A. Ramani, M. Brudno, J. Dowling September 12, 2017

The application of next-generation sequencing technology to clinical diagnostics has been highly successful, particularly in identifying monogenic disease-causing variants by whole exome sequencing (WES). However, many clinical cases cannot be solved by this method alone. Thus, there is a need to develop new tools to detect more subtle genomic effects, such as non-coding mutations.… Read More...

D. Frank, J. Dworzak, M. Lawlor, S. Lewis, Z. Sahenk, M. Stewart, C. Kincaid, C. Sewry, L. Feng, R. Phadke, F. Muntoni, J. Mendell, S. Moore September 12, 2017

Skeletal muscle biopsies are often required in clinical trials to accurately assess the effect of therapies such as those that induce dystrophin production in patients with Duchenne muscular dystrophy (DMD). In the past, technical and logistical challenges hindered the collection of muscle biopsy samples that were of sufficient quality for the intended histologic and biochemical analyses.… Read More...

K. Johnson, A. Töpf, M. Bertoli, L. Phillips, A. Blain, M. Ensini, M. Lek, L. Xu, T. Mullen, E. Valkanas, D. MacArthur, V. Straub September 12, 2017

Muscular dystrophies are a heterogeneous group of rare genetic disorders that are characterised by progressive skeletal muscle wasting and weakness, and can directly precipitate premature mortality. Since up to 80% of these diseases have an underlying genetic cause, traditional clinical methodologies are currently inadequate.… Read More...

I. Zaharieva, A. Sarkozy, A. Manzur, P. Munot, H. Jungbluth, L. Feng, R. Phadke, C. Sewry, S. Treves, F. Muntoni September 12, 2017

STAC3 (SH3 and cysteine-rich domain-containing protein 3) is essential for muscle contraction by facilitating excitation-contraction (EC) coupling through a not completely understood mechanism. The homozygous p.Trp284Ser STAC3 mutation was reported previously as causative for native American myopathy in the Lumbee tribe of North Carolina.… Read More...

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