Calf Muscle Strength in Mitochondrial Diseases

NCT ID: NCT02678637

Last Updated: 2017-08-17

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

37 participants

Study Classification

OBSERVATIONAL

Study Start Date

2016-04-30

Study Completion Date

2016-08-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Mitochondrial Disease

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

CROSS_SECTIONAL

Interventions

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MRI and muscle dynamometer

Intervention Type OTHER

Eligibility Criteria

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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.
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Rigshospitalet, Denmark

OTHER

Sponsor Role lead

Responsible Party

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Nanna Scharff Nielsen

Student researcher

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Nanna S Nielsen, B.Sc

Role: PRINCIPAL_INVESTIGATOR

Copenhagen Neuromuscular Center

Locations

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Rigshospitalet

Copenhagen, Copenhagen East, Denmark

Site Status

Countries

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Denmark

References

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Lightowlers RN, Taylor RW, Turnbull DM. Mutations causing mitochondrial disease: What is new and what challenges remain? Science. 2015 Sep 25;349(6255):1494-9. doi: 10.1126/science.aac7516. Epub 2015 Sep 24.

Reference Type BACKGROUND
PMID: 26404827 (View on PubMed)

Paternostro-Sluga T, Grim-Stieger M, Posch M, Schuhfried O, Vacariu G, Mittermaier C, Bittner C, Fialka-Moser V. Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy. J Rehabil Med. 2008 Aug;40(8):665-71. doi: 10.2340/16501977-0235.

Reference Type BACKGROUND
PMID: 19020701 (View on PubMed)

Related Links

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http://www.mda.org/disease/mitochondrial-myopathies

Home page with knowledge about mitochondrial diseases. Used to write the "Background" in the study protocol.

Other Identifiers

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H-1600058

Identifier Type: -

Identifier Source: org_study_id

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