Nemaline Myopathy and related disorders

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Nemaline Myopathy and related disorders

20 doctors and scientists from 7 countries gathered in Newcastle-upon-Tyne on the 28th and 29th September 2008, for the seventh ENMC Workshop on nemaline myopathy and related disorders. A representative of the patient group “A Foundation Building Strength” gave a presentation at the start of the Workshop. This Workshop was held to coincide with the Annual Scientific Meeting of the World Muscle Society. The main themes of the Workshop were: continued gene discovery; better definition of clinical entities; animal and tissue culture models of nemaline myopathy; preliminary experimental investigation in model systems of possible therapeutic strategies; locus-specific mutation databases; establishing databases in preparation for anticipated future clinical trials and finally discussion on better methods for molecular analysis of the known nemaline myopathy and related disorders disease genes, especially nebulin. Expected major efforts in the near future include further analysis of possible therapies, development of additional animal models in which to investigate therapies and the implementation of the databases in order to be ready for any future clinical trials. The Workshop participants recognise that a multinational approach to these rare disorders is essential, especially in relation to enrolling patients in any future clinical trials.

A detailed report of these conclusions, including the guidelines, is published in Neuromuscular Disorders (pdf)