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NCT Number: NCT02161848

MRI Study - 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.

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Key information

Conditions

Chronic Progressive External Ophthalmoplegia Chronic Disease Cranial Nerve Diseases Disease Attributes Eye Diseases Metabolic Diseases Mitochondrial Diseases Mitochondrial Myopathies Muscular Diseases Musculoskeletal Diseases Nervous System Diseases Neurologic Manifestations Neuromuscular Diseases Nutritional and Metabolic Diseases Ocular Motility Disorders Ophthalmoplegia Ophthalmoplegia, Chronic Progressive External Paralysis Pathologic Processes Pathological Conditions, Signs and Symptoms Signs and Symptoms

Age range

18 year–80 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Neuromuscular Research Unit

Copenhagen, 2100, Denmark

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Magnetic Resonance Imaging

Other

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

Primary outcomes

  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 outcomes

  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 outcomes

  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.

Sponsors and collaborators

Lead sponsor

Rigshospitalet, Denmark

Other

Registry information

Official study title

Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia

Acronym: CPEO

Important dates

Study start
2014
Primary completion
2015
Study completion
2015
First posted
Jun 12, 2014
Registry last updated
Apr 14, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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