MRI Study - Chronic Progressive External Ophthalmoplegia

NCT02161848 | Completed

• 1 other identifier: H-3-2012-163 (CPEO)
• Study Type: observational
• Target: 133
• Locations: 1 country
• Sites: 1

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.

Conditions

Chronic Progressive External Ophthalmoplegia

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (4)

• Isokinetic muscle dynamometry of ankle flexion

  1 day

• Isokinetic muscle dynamometry of ankle extension

  1 day

• Isokinetic muscle dynamometry of knee flexion.

  1 day

• Isokinetic muscle dynamometry of knee extension

  1 day

Other Outcomes (1)

• MRI T1 scan of eye muscles

  1 day

Study Arms (3)

Patients

Patients with verified singe large-scale mtDNA deletions and chronic progressive external ophthalmoplegia.

Other: Magnetic Resonance Imaging

Controls

Healthy controls matched for age and gender.

Other: Magnetic Resonance Imaging

Patient group as Controls

Patients with mitochondrial DNA 3243A\>G mutations

Other: Magnetic Resonance Imaging

Interventions

Magnetic Resonance Imaging OTHER

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

Controls; Patient group as Controls; Patients

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• Rigshospitalet, Denmark: lead

Study Sites (1)

Neuromuscular Research Unit

Copenhagen, 2100, Denmark

Location

MeSH Terms

Conditions

Ophthalmoplegia, Chronic Progressive External

Interventions

Magnetic Resonance Spectroscopy

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Spectrum Analysis; Chemistry Techniques, Analytical; Investigative Techniques

Study Design

• Study Type: observational
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Bsc.

Study Record Dates

• First Submitted: June 6, 2014
• First Posted: June 12, 2014
• Study Start: June 1, 2014
• Primary Completion: October 1, 2015
• Study Completion: October 1, 2015
• Last Updated: April 14, 2016

Record last verified: 2016-04

Locations

DK (1)