Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology.
J Neuromuscul Dis
; 6(1): 147-159, 2019.
Article
in En
| MEDLINE
| ID: mdl-30614809
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Dystrophin
/
Muscle, Skeletal
/
Clinical Laboratory Techniques
Type of study:
Diagnostic_studies
Limits:
Animals
/
Humans
Language:
En
Journal:
J Neuromuscul Dis
Year:
2019
Document type:
Article
Affiliation country:
Netherlands
Publication country:
HOLANDA
/
HOLLAND
/
NETHERLANDS
/
NL
/
PAISES BAJOS
/
THE NETHERLANDS