MRI Study - Chronic Progressive External Ophthalmoplegia (CPEO)
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About
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.
Full 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.
Enrollment
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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
Trial design
133 participants in 3 patient groups
Trial contacts and locations
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Data sourced from clinicaltrials.gov
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