Mitochondrial DiseaseCMSMDNCT02678637
Calf Muscle Strength in Mitochondrial Diseases
An observational study of Mitochondrial Disease, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Mitochondrial Disease
- What is being tested?
- MRI and muscle dynamometer
- How many people
- 37 participants
- Where
- 1 siteDenmark
- Study dates
- Apr 2016to Aug 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients with verified mitochondrial disease.
Who may be able to join
- Verified mitochondrial disease.
- Age: Over 18 years old
Who cannot join
- Contraindications for an MRI.
- Claustrophobia.
- Pregnant or nursing women.
- Competing disorders (as arthritis) or other muscle disorders.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Calf Muscle Strength in Patients Affected by Mitochondrial Diseases as Compared to Healthy Individuals
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.
Read the 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.
- Conditions
- Mitochondrial Disease
- Being tested
- MRI and muscle dynamometer
- Keywords
- MRI, CCSA, Contractile Cross Sectional Area, Strength, Calf muscle
- Medical subject headings
- Mitochondrial Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
MRI and muscle dynamometerOther
What is being measured
The primary outcome is the main question the study is designed to answer.
Muscle CCSA, investigated by Dixon MRI techniques.
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.
Measured: One MRI scan per subject (exam lasts approximately 60 min.)
Muscle strength, measured as peak torque, investigated by an isokinetic dynamometer (Biodex 4).
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.
Measured: The tests takes less than an hour and are only done once.
Secondary outcomes (1)
Assessment of the muscle strength by a clinical test using "the Medical Research Council Scale for muscle strength" (MRC-scale).
Measured: The exam lasts 15 min.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Feb 2016 (estimated)
- Study startApr 2016
- Primary completionAug 2016
- Study completionAug 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (2)Papers the sponsor has linked to this study.
- Other trials for Mitochondrial DiseaseStudies of the same condition, open and under way.
- More trials run by Copenhagen University Hospital, RigshospitaletThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 37 participants (actual)
Sponsor and investigators
- Lead sponsor
- Copenhagen University Hospital, Rigshospitalet
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Nanna Scharff Nielsen, Copenhagen University Hospital, Rigshospitalet
- Investigators
- Nanna S Nielsen, B.Sc, Principal investigator, Copenhagen Neuromuscular Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02678637
- Sponsor's protocol ID
- H-1600058
- Acronym
- CMSMD
- Status last verified
- Aug 2017
- First submitted
- 3 Feb 2016
- Last updated
- 17 Aug 2017
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- No
Publications
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.
PubMed 26404827Paternostro-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.
PubMed 19020701
Study at a glance
From the registry record, last updated by the sponsor on 17 Aug 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Calf Muscle Strength in Patients Affected by Mitochondrial Diseases as Compared to Healthy Individuals
- ClinicalTrials.gov ID
- NCT02678637
- Acronym / sponsor ID
- CMSMD / H-1600058
- Conditions
- Mitochondrial Disease
- Keywords
- MRI, CCSA, Contractile Cross Sectional Area, Strength, Calf muscle
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 37 participants (actual)
- Lead sponsor
- Copenhagen University Hospital, RigshospitaletUniversity, hospital or other
- Study start
- Apr 2016
- Primary completion
- Aug 2016 (actual)
- Study completion
- Aug 2016 (actual)
- First posted
- 10 Feb 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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 design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients with verified mitochondrial disease.
Key inclusion criteria (2 listed)
- Verified mitochondrial disease.
- Age: Over 18 years old
Key exclusion criteria (4 listed)
- Contraindications for an MRI.
- Claustrophobia.
- Pregnant or nursing women.
- Competing disorders (as arthritis) or other muscle disorders.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| MRI and muscle dynamometer | Other | – |
Primary outcome
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.
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.
1 secondary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Aug 2017.
- Background: PubMed 26404827Lightowlers 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.
- Background: PubMed 19020701Paternostro-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.
- Home page with knowledge about mitochondrial diseases. Used to write the "Background" in the study protocol.Link provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Nanna S Nielsen, B.Sc principal investigator
Copenhagen Neuromuscular Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mitochondrial Disease, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 17 Aug 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Denmark. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Muscle CCSA, investigated by Dixon MRI techniques. (time frame: One MRI scan per subject (exam lasts approximately 60 min.)). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02678637, which also lists 2 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Aug 2017.