MRI Study - Chronic Progressive External Ophthalmoplegia

Study Overview
=================
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 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.

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

Conditions
-----------------
Chronic Progressive External Ophthalmoplegia

Intervention / Treatment
-----------------
* Other: Magnetic Resonance Imaging


Participation Criteria
=================
Eligibility Criteria
-----------------
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

Ages Eligible for Study
-----------------
Minimum Age: 18 Years
Maximum Age: 80 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
Accepts Healthy Volunteers

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients<br>Patients with verified singe large-scale mtDNA deletions and chronic progressive external ophthalmoplegia. | Other: Magnetic Resonance Imaging<br>* MRI of eye muscles, lower bag muscles, thigh muscles and calf muscles.<br>|
| Controls<br>Healthy controls matched for age and gender. | Other: Magnetic Resonance Imaging<br>* MRI of eye muscles, lower bag muscles, thigh muscles and calf muscles.<br>|
| Patient group as Controls<br>Patients with mitochondrial DNA 3243A>G mutations | Other: Magnetic Resonance Imaging<br>* MRI of eye muscles, lower bag muscles, thigh muscles and calf muscles.<br>|

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Fat fraction in the muscles of the lower bag, thighs and calves | 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. | 1 day | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Isokinetic muscle dynamometry of ankle flexion | 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. | 1 day | 
| Isokinetic muscle dynamometry of ankle extension | 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. | 1 day | 
| Isokinetic muscle dynamometry of knee flexion. | 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. | 1 day | 
| Isokinetic muscle dynamometry of knee extension | 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. | 1 day |