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Clinical Trial Summary

The purpose of this study is to investigate the fraction of fat on a MRI scan of lower bag muscles, thighs and calves in patients with the mitochondrial disease chronic progressive external ophthalmoplegia (CPEO).

Additionally an investigation of the volume of the eye muscles will be done and compared to the patient's clinical presentation of ptosis and ophthalmoplegia.


Clinical Trial Description

The lack of energy and fatigue seen in patients with mitochondrial diseases have been assumed to be caused by an energy defect because of a genetic defect in the mitochondrial DNA.

The investigators have analyzed a few MRI scans of muscles from patients with CPEO and have seen an extended amount of fat in their muscles, which seems to progress with age. The patient's symptoms might be caused by the extended amount of fat and thereby a less amount of active muscle instead of the "energy defect".

This will be investigated in a group of patients with CPEO and the results will be compared with results from a group of healthy controls. ;


Study Design

Time Perspective: Cross-Sectional


Related Conditions & MeSH terms


NCT number NCT02161848
Study type Observational
Source Rigshospitalet, Denmark
Contact
Status Completed
Phase N/A
Start date June 2014
Completion date October 2015

See also
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