Clinical Trial: MRI Study - Chronic Progressive External Ophthalmoplegia

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia

Brief 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.


Detailed Summary:

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.


Sponsor: Rigshospitalet, Denmark

Current Primary Outcome: Fat fraction in the muscles of the lower bag, thighs and calves [ Time Frame: 1 day ]

The investigators will make a 3-point Dixon scan of the muscles of the lower bag, thighs and calves and measure the fraction of fat in these muscles once per patient or control.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Isokinetic muscle dynamometry of ankle flexion [ Time Frame: 1 day ]
    Isokinetic muscle dynamometry of ankle flexion. This is made on a Biodex 3 and done once per patient or control the same day as the MRI-scan is done. These results are correlated with the amount of non-fat-infiltrated muscle on the MRI scans.
  • Isokinetic muscle dynamometry of ankle extension [ Time Frame: 1 day ]
    Isokinetic muscle dynamometry of ankle extension. This is made on a Biodex 3 and done once per patient or control the same day as the MRI-scan is done. These results are correlated with the amount of non-fat-infiltrated muscle on the MRI scans.
  • Isokinetic muscle dynamometry of knee flexion. [ Time Frame: 1 day ]
    Isokinetic muscle dynamometry of knee flexion. This is made on a Biodex 3 and done once per patient or control the same day as the MRI-scan is done. These results are correlated with the amount of non-fat-infiltrated muscle on the MRI scans.
  • Isokinetic muscle dynamometry of knee extension [ Time Frame: 1 day ]
    Isokinetic muscle dynamometry of knee extension. This is made on a Biodex 3 and done once per patient or control the same day as the MRI-scan is done. These results are correlated with the amount of non-fat-infiltrated muscle on the MRI scans.


Original Secondary Outcome: Same as current

Information By: Rigshospitalet, Denmark

Dates:
Date Received: June 6, 2014
Date Started: June 2014
Date Completion:
Last Updated: April 13, 2016
Last Verified: April 2016