1. Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology
- Author
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Marisol Montolio, Nicole A. Datson, Francesco Muntoni, Eric P. Hoffman, Judith C.T. van Deutekom, Pallavi Lonkar, Michael Binks, Jane Owens, Virginia Arechavala-Gomeza, Glenn E. Morris, V. Ashutosh Rao, Rahul Phadke, Hendrik Neubert, Annemieke Aartsma-Rus, and Jennifer E. Morgan
- Subjects
0301 basic medicine ,medicine.medical_specialty ,biology ,business.industry ,Translational research ,Meeting Report ,Critical discussion ,Clinical trial ,Food and drug administration ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Neurology ,Reference sample ,Healthy individuals ,medicine ,biology.protein ,Medical physics ,Neurology (clinical) ,Regulatory agency ,business ,Dystrophin ,030217 neurology & neurosurgery - Abstract
Representatives of academia, patient organisations, industry and the United States Food and Drug Administration attended a workshop on dystrophin quantification methodology. The aims of the workshop were to provide an overview of methods used to quantify dystrophin levels in human skeletal muscle and their applicability to clinical trial samples, outline the gaps with regards to validating the methods for robust clinical applications prior to regulatory agency review, and to align future efforts towards further optimizing these methods. The workshop facilitated a constructive but also critical discussion on the potential and limitations of techniques currently used in the field of translational research (western blot and immunofluorescence analysis) and emerging techniques (mass spectrometry and capillary western immunoassay). Notably, all participants reported variation in dystrophin levels between muscle biopsies from different healthy individuals and agreed on the need for a common reference sample.
- Published
- 2019