MRI Study - Chronic Progressive External Ophthalmoplegia (CPEO)

Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia

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.

Study Overview

• Status: Completed
• Conditions: Chronic Progressive External Ophthalmoplegia
• Intervention / Treatment: Other: Magnetic Resonance Imaging

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.

• Study Type: Observational
• Enrollment (Actual): 133

Contacts and Locations

Study Locations

• Denmark
  • Copenhagen, Denmark, 2100
    • Neuromuscular Research Unit

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years to 78 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

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

Description

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

Study Plan

How is the study designed?

Design Details

• Time Perspectives: Cross-Sectional

Number of groups / cohorts

3

Cohorts and Interventions

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

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

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
MRI T1 scan of eye muscles	Investigation of the volume of the eye muscles on a MRI scan and compare these with the patients clinical presentation of ptosis and ophthalmoplegia. The MRI scan is done once per patient or control and at the same day as the other MRI scans.	1 day

Collaborators and Investigators

• Sponsor: Rigshospitalet, Denmark

Study record dates

Study Major Dates

• Study Start: June 1, 2014
• Primary Completion (Actual): October 1, 2015
• Study Completion (Actual): October 1, 2015

Study Registration Dates

• First Submitted: June 6, 2014
• First Submitted That Met QC Criteria: June 11, 2014
• First Posted (Estimate): June 12, 2014

Study Record Updates

• Last Update Posted (Estimate): April 14, 2016
• Last Update Submitted That Met QC Criteria: April 13, 2016
• Last Verified: April 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Nervous System Diseases; Eye Diseases; Neurologic Manifestations; Musculoskeletal Diseases; Muscular Diseases; Neuromuscular Diseases; Cranial Nerve Diseases; Ocular Motility Disorders; Mitochondrial Diseases; Paralysis; Mitochondrial Myopathies; Ophthalmoplegia, Chronic Progressive External; Ophthalmoplegia
• Other Study ID Numbers: H-3-2012-163 (CPEO)