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Calf Muscle Strength in Mitochondrial Diseases (CMSMD)

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ClinicalTrials.gov Identifier: NCT02678637
Recruitment Status : Completed
First Posted : February 10, 2016
Last Update Posted : August 17, 2017
Sponsor:
Information provided by (Responsible Party):
Nanna Scharff Nielsen, Rigshospitalet, Denmark

Brief Summary:

Mitochondrial disorders are a group of inherited disorders causing malfunctional mitochondria. Mitochondria are found in every cell of the body, and the disorders therefore give symptoms from every tissue, especially those with high energy needs as the brain, heart and muscles. The disorders are highly disabling.

The aim of the study is to investigate the relation between muscle strength and contractile cross sectional area (CCSA) in the leg of patients affected by mitochondrial diseases. The hypothesis is that there can be a disrupted relationship between strength and CCSA.


Condition or disease Intervention/treatment
Mitochondrial Disease Other: MRI and muscle dynamometer

Detailed Description:

Mitochondrial disorders are a group of inherited disorders caused by mutations in genes encoding mitochondrial proteins. The proteins are encoded by genes from both the mitochondrial DNA (mtDNA) and the nucleus, making some of the disorders maternally inherited and some autosomal recessive or dominant.

The mitochondria are found in almost all cells in the body and are the main source of energy. The energy is produced through the electron transport chain, which is composed of four multi subunit complexes (I to IV). A mutation in one or more of these complexes is a typical cause of a mitochondrial disease.

Since the mitochondria are found in almost every cell, mitochondrial disease can give rise to symptoms from many organs. The symptoms depend on what kind of mutation the patient has, but usually includes muscular and neurological problems, as these cells have especially high energy needs.

It is believed that the muscle weakness in mitochondrial diseases is caused by the reduced ability to produce energy. However, recent research has suggested that there is a structural change in the muscles as well. The hypothesis is that this structural change in the muscles will affect its function.

The aim of the study is to investigate the relation between muscle strength and contractile cross sectional area (CCSA) in the calf of patients affected by mitochondrial diseases. In healthy individuals there is a close relation between strength and CCSA, as the strength will decrease according to a decrease in CCSA. In mitochondrial disease, the hypothesis is that there can be a disrupted relationship between strength and CCSA.

The investigators will recruit 30 subjects with verified mitochondrial disease, and compare the results to that of healthy individuals (results from an earlier research project). A Dixon MRI will be used to find the CCSA of the calf muscle and a muscle dynamometer will be used to find the strength. These two variables are compared.


Study Type : Observational
Actual Enrollment : 37 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Calf Muscle Strength in Patients Affected by Mitochondrial Diseases as Compared to Healthy Individuals
Study Start Date : April 2016
Actual Primary Completion Date : August 2016
Actual Study Completion Date : August 2016





Primary Outcome Measures :
  1. Muscle CCSA, investigated by Dixon MRI techniques. [ Time Frame: One MRI scan per subject (exam lasts approximately 60 min.) ]
    The MRI protocol include a whole body scan. The calf is chosen for qualitative analysis. Cross sectional area is calculated, the amount of adipose tissue is calculated, and the amount of adipose tissue is subtracted from the CSA, giving the CCSA.

  2. Muscle strength, measured as peak torque, investigated by an isokinetic dynamometer (Biodex 4). [ Time Frame: The tests takes less than an hour and are only done once. ]
    The dynamometer makes it possible to isolate particular muscle groups. It is possible to control the range of motion and thereby test in an area free of pain.


Secondary Outcome Measures :
  1. Assessment of the muscle strength by a clinical test using "the Medical Research Council Scale for muscle strength" (MRC-scale). [ Time Frame: The exam lasts 15 min. ]


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with verified mitochondrial disease.
Criteria

Inclusion Criteria:

  • Verified mitochondrial disease.
  • Age: Over 18 years old

Exclusion Criteria:

  • Contraindications for an MRI.
  • Claustrophobia.
  • Pregnant or nursing women.
  • Competing disorders (as arthritis) or other muscle disorders.

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): NCT02678637


Locations
Denmark
Rigshospitalet
Copenhagen, Copenhagen East, Denmark, 2100
Sponsors and Collaborators
Rigshospitalet, Denmark
Investigators
Principal Investigator: Nanna S Nielsen, B.Sc Copenhagen Neuromuscular Center

Additional Information:
Publications:
Responsible Party: Nanna Scharff Nielsen, Student researcher, Rigshospitalet, Denmark
ClinicalTrials.gov Identifier: NCT02678637     History of Changes
Other Study ID Numbers: H-1600058
First Posted: February 10, 2016    Key Record Dates
Last Update Posted: August 17, 2017
Last Verified: August 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by Nanna Scharff Nielsen, Rigshospitalet, Denmark:
MRI
CCSA
Contractile Cross Sectional Area
Strength
Calf muscle

Additional relevant MeSH terms:
Mitochondrial Diseases
Metabolic Diseases