[Sialic Acid Replacement Therapy for Distal Myopathy with Rimmed Vacuoles].
Brain Nerve
; 67(9): 1115-23, 2015 Sep.
Article
in Ja
| MEDLINE
| ID: mdl-26329152
ABSTRACT
Distal myopathy with rimmed vacuoles or GNE myopathy, is an early adult-onset myopathy with slow progression that preferentially affects the tibialis anterior muscle. Severely affected patients show marked limb muscle atrophy together with respiratory dysfunction. The disease is caused by a mutation in the GNE gene that catalyzes two rate-limiting reactions in cytosolic sialic acid synthesis. Oral treatment with sialic acid metabolite prevents muscle atrophy and weakness in a mouse GNE myopathy model and a global Phase III study is currently underway. In addition, a global patient registry of neuromuscular cases is widely accepted as a useful tool to obtain epidemiological data and bolster patient recruitment for further development of this treatment strategy.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Vacuoles
/
Muscle, Skeletal
/
N-Acetylneuraminic Acid
/
Distal Myopathies
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Animals
/
Humans
Language:
Ja
Journal:
Brain Nerve
Journal subject:
CEREBRO
/
NEUROLOGIA
Year:
2015
Document type:
Article