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Multiplicity of experimental approaches to therapy for genetic muscle diseases and necessity for population screening

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Abstract

Currently a multiplicity of experimental approaches to therapy for genetic muscle diseases is being investigated. These include replacement of the missing gene, manipulation of the gene message, repair of the mutation, upregulation of an alternative gene and pharmacological interventions targeting a number of systems. A number of these approaches are in current clinical trials. There is considerable anticipation that perhaps more than one of the approaches will finally prove of clinical benefit, but there are many voices of caution. No matter which approaches might ultimately prove effective, there is a consensus that for most benefit to the patients it will be necessary to start treatment as early as possible. A consensus is also developing that the only way to do this is to implement population-based newborn screening to identify affected children shortly after birth. Population-based newborn screening is currently practised in very few places in the world and it brings with it implications for prevention rather than cure of genetic muscle diseases.

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Acknowledgments

The support of Australian National Health and Medical Research Council Principal Research Fellowship 403941 is gratefully acknowledged.

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  1. Centre for Medical Research, Western Australian Institute for Medical Research, QEII Medical Centre, University of Western Australia, B Block, Hovea Lane, Nedlands, Western Australia, 6009, Australia

    Nigel G. Laing

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Laing, N.G. Multiplicity of experimental approaches to therapy for genetic muscle diseases and necessity for population screening. J Muscle Res Cell Motil 29, 247–252 (2008). https://doi.org/10.1007/s10974-008-9158-5

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