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J Neuromuscul Dis. 2019;6(1):147-159. doi: 10.3233/JND-180357.

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology.

Author information

1
Leiden University Medical Center, Leiden, the Netherlands.
2
Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
3
Wave Life Sciences, Cambridge, MA, USA.
4
Pfizer Inc, BioMedicine Design 1 Burtt Road, Andover, MA, USA.
5
Pfizer Inc, Rare Disease Research Unit, 610 Main Street, Cambridge, MA, USA.
6
Department of Cell Biology, Fisiology and Immunology, Faculty of Biology, University of Barcelona.
7
Duchenne Parent Project Spain, Spain.
8
National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London, United Kingdom.
9
BioMarin Nederland BV, Leiden, The Netherlands.
10
Wolfson Centre for Inherited Neuromuscular Disease, Keele University and RJAH Orthopaedic Hospital, Oswestry, UK.
11
Center for Drug Evaluation and Research, U.S. Food and Drug Administration, Silver Spring, Maryland, MD, USA.
12
Binghamton University-SUNY, Binghamton, NY, USA and AGADA BioSciences, Halifax, Nova Scotia, Canada.
13
National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London WC1, N 1EH, United Kingdom.
14
Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.

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.

PMID:
30614809
DOI:
10.3233/JND-180357

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