MRI Study - Chronic Progressive External Ophthalmoplegia

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

133 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-06-30

Study Completion Date

2015-10-31

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Chronic Progressive External Ophthalmoplegia

Study Design

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Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Patients

Patients with verified singe large-scale mtDNA deletions and chronic progressive external ophthalmoplegia.

Magnetic Resonance Imaging

Intervention Type OTHER

MRI of eye muscles, lower bag muscles, thigh muscles and calf muscles.

Controls

Healthy controls matched for age and gender.

Magnetic Resonance Imaging

Intervention Type OTHER

MRI of eye muscles, lower bag muscles, thigh muscles and calf muscles.

Patient group as Controls

Patients with mitochondrial DNA 3243A\>G mutations

Magnetic Resonance Imaging

Intervention Type OTHER

MRI of eye muscles, lower bag muscles, thigh muscles and calf muscles.

Interventions

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Magnetic Resonance Imaging

MRI of eye muscles, lower bag muscles, thigh muscles and calf muscles.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Danish patients with verified single large-scale mtDNA deletions and chronic progressive external ophthalmoplegia.

Exclusion Criteria

* Patients who have metal implants in the body, for instance surgical clips, cochlear implant, pacemaker etc.
* Patients who are pregnant or breast-feeding.
* Patients who are claustrophobic

Minimum Eligible Age

18 Years

Maximum Eligible Age

80 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes