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Scientific Articles

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

key information

source: Journal of Neuromuscular Diseases

year: 2019

authors: Aartsma-Rus A, Morgan J, Lonkar P, Neubert H, Owens J, Binks M, Montolio M, Phadke R, Datson N, Van Deutekom J, Morris GE, Rao VA, Hoffman EP, Muntoni F, Arechavala-Gomeza V


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.

organization: Leiden University Medical Center, Netherlands; Dubowitz Neuromuscular Centre, UK; Wave Life Sciences, USA; Pfizer Inc, USA; University of Barcelona, Spain; Duchenne Parent Project Spain, Spain; National Hospital for Neurology and Neurosurgery, UK; BioMarin Nederland BV, Netherlands; Wolfson Centre for Inherited Neuromuscular Disease, UK; Center for Drug Evaluation and Research, USA; Binghamton University-SUNY, USA; AGADA BioSciences, Canada; Great Ormond Street Institute of Child Health Biomedical Research Centre, UK; Biocruces Bizkaia Health Research Institute, Spain

DOI: 10.3233/JND-180357

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