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MRI Study - Chronic Progressive External Ophthalmoplegia (CPEO)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02161848
Recruitment Status : Completed
First Posted : June 12, 2014
Last Update Posted : April 14, 2016
Sponsor:
Information provided by (Responsible Party):
Gitte Hedermann Pedersen, Rigshospitalet, Denmark

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.


Condition or disease Intervention/treatment
Chronic Progressive External Ophthalmoplegia 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.

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Study Type : Observational
Actual Enrollment : 133 participants
Time Perspective: Cross-Sectional
Official Title: Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia
Study Start Date : June 2014
Actual Primary Completion Date : October 2015
Actual Study Completion Date : October 2015


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.




Primary Outcome Measures :
  1. 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.


Secondary Outcome Measures :
  1. 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.

  2. 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.

  3. 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.

  4. 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.


Other Outcome Measures:
  1. MRI T1 scan of eye muscles [ Time Frame: 1 day ]
    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.



Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 80 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Danish patients with verified single large-scale mtDNA deletions and chronic progressive external ophthalmoplegia.
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02161848


Locations
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Denmark
Neuromuscular Research Unit
Copenhagen, Denmark, 2100
Sponsors and Collaborators
Rigshospitalet, Denmark

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Responsible Party: Gitte Hedermann Pedersen, Bsc., Rigshospitalet, Denmark
ClinicalTrials.gov Identifier: NCT02161848    
Other Study ID Numbers: H-3-2012-163 (CPEO)
First Posted: June 12, 2014    Key Record Dates
Last Update Posted: April 14, 2016
Last Verified: April 2016
Additional relevant MeSH terms:
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Ophthalmoplegia, Chronic Progressive External
Ophthalmoplegia
Ocular Motility Disorders
Cranial Nerve Diseases
Nervous System Diseases
Paralysis
Neurologic Manifestations
Eye Diseases
Signs and Symptoms
Mitochondrial Myopathies
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Mitochondrial Diseases
Metabolic Diseases