Mitochondrial MyopathyPhase 2NCT00457314
The Effects of Exercise Versus Inactivity on People With Mitochondrial Muscle Disease
A Phase 2 study testing Exercise in people with Mitochondrial Myopathy, run by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at 1 site in United States.
Trial summary
Mitochondrial myopathies include various inherited diseases that are caused by damage to the mitochondria, energy-producing structures that fuel the body's processes. The main symptoms are muscle weakness, reduced muscle mass, and difficulty with exercising. Read more about this study
- Who is it for?
- Ages 18 to 65 years
- Conditions the study is for
- Mitochondrial Myopathy
- What is being tested?
- Exercise
- Type of treatment
- Lifestyle or therapy programme
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 50 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2007to Jun 2012
- Phase
- Phase 2
- 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 to 65 years
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Diagnosis of mitochondrial myopathy
- Single-large scale deletions of mitochondrial DNA
- Point mutations in mitochondrial DNA
Who cannot join
- Symptoms or electrocardiogram-generated signs of coronary artery disease
- Symptoms of congestive heart failure; peripheral vascular disease; or lung, kidney, or liver disease
- History of alcohol or substance abuse
- Metal implants or related devices that contraindicate MRI
- Current use of or require any medications that have significant systemic cardiovascular effects
- Diabetes
- Obesity (body mass index [BMI] greater than 30)
- Resting systolic blood pressure greater than 140 mmHg and/or diastolic blood pressure greater than 90 mmHg at three different times
Trial locations and contacts
1 site in 1 country.
United States1 site, 1 recruiting
- Recruiting
University of Texas Southwestern Medical Center
Dallas, Texas, 75321
Ronald Haller, MD
About this study
Official title: Exercise Training and Deconditions: Implications for Therapy in Mitochondrial Myopathy
Mitochondrial myopathies include various inherited diseases that are caused by damage to the mitochondria, energy-producing structures that fuel the body's processes. The main symptoms are muscle weakness, reduced muscle mass, and difficulty with exercising. The purpose of this study is to determine the effects of exercise training versus inactivity on mitochondrial function in muscle and muscle performance in people with mitochondrial myopathies.
Read the detailed description
Mitochondrial myopathies are caused by mutant mitochondrial DNA, genetic defects in parts of the mitochondrial DNA. These defects can include missing or deleted DNA that typically codes for certain proteins involved in energy production. These mutations cause individual mitochondria and the body on a whole to produce energy less efficiently. Because muscle cells require extensive energy to function properly, they are particularly impaired by mitochondrial dysfunction. The onset of most mitochondrial myopathies occurs before the age of 20. Initially a person may experience muscle weakness and fatigue during physical activity. Other symptoms may include limited eye mobility, heart arrhythmias, slurred speech, swallowing difficulties, and impaired movement.
There is no cure yet for mitochondrial myopathies, nor is there any adequate treatment to stall disease progression. Exercise, known to boost the production and function of mitochondria in healthy people, may reduce symptoms in people with mitochondrial myopathies by increasing the number and function of normal mitochondria in an individual muscle cell. The purpose of this study is to determine the effects of exercise training versus inactivity on the expression of normal and mutant mitochondrial DNA and on mitochondrial production within muscle cells in people with mitochondrial myopathies. The study will also assess how cell function, physical endurance, heart function, and quality of life are affected by exercise training and inactivity.
Participants in this 2-year study will first undergo physiological exercise testing, magnetic resonance imaging (MRI) of heart and skeletal muscles, a needle biopsy of muscle, and a questionnaire on quality of life. Participants will then be randomly assigned to partake in regular exercise training or no training for 6 months. After 6 months, all participants will undergo repeat testing of initial evaluations. Participants who had been in the exercising group will then switch to no exercise training for 6 months, and participants who had been in the non-exercising group will switch to regular exercise training for 6 months. The second 6-month period will also be followed by repeat testing of initial evaluations. Participants will then be encouraged to continue exercise training for an additional 1 year, with retesting at the end of the second year. Each of the four evaluations will take about 15 hours over 5 days.
- Conditions
- Mitochondrial Myopathy
- Being tested
- Exercise
- Keywords
- single-large scale deletions, point mutations in mtDNA
- Medical subject headings
- Mitochondrial Myopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ExerciseBehavioural
Regular exercise training
| Study group | Role | What they receive |
|---|---|---|
| 1 | Experimental | Participants will partake in regular exercise training for 6 months. After 6 months, they will switch to no exercise training for 6 months. Participants will then be encouraged to continue exercise training for an additional 1 year. Receives: Behavioral: Exercise |
| 2 | Experimental | Participants will not partake in regular exercise training for 6 months. After 6 months, they will switch to exercise training for 6 months. Participants will then be encouraged to continue exercise training for an additional 1 year. Receives: Behavioral: Exercise |
What is being measured
The primary outcome is the main question the study is designed to answer.
Changes in wild-type (normal), mutant, and total mitochondrial DNA copy number
Measured: Measured at Week 26
Physiological measure of oxidative metabolism
Measured: Measured at Week 26
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Apr 2007 (estimated)
- Study startJun 2007
- Primary completionJun 2012 (estimated)
- Study completionJun 2012 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mitochondrial MyopathyStudies of the same condition, open and under way.
- 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
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- None (open label)
- Enrolment
- 50 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
- Sponsor type
- US National Institutes of Health
- Investigators
- Ronald Haller, MD, Principal investigator, University of Texas Southwestern Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00457314
- Sponsor's protocol ID
- R01AR050597
- Other IDs
- 1R01AR050597-01A1
- Status last verified
- May 2009
- First submitted
- 5 Apr 2007
- Last updated
- 19 May 2009
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 19 May 2009. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exercise Training and Deconditions: Implications for Therapy in Mitochondrial Myopathy
- ClinicalTrials.gov ID
- NCT00457314
- Acronym / sponsor ID
- R01AR050597
- Conditions
- Mitochondrial Myopathy
- Keywords
- single-large scale deletions, point mutations in mtDNA
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Unknown status
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)US National Institutes of Health
- Study start
- Jun 2007
- Primary completion
- Jun 2012 (estimated)
- Study completion
- Jun 2012 (estimated)
- First posted
- 6 Apr 2007 (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 myopathies include various inherited diseases that are caused by damage to the mitochondria, energy-producing structures that fuel the body's processes. The main symptoms are muscle weakness, reduced muscle mass, and difficulty with exercising. The purpose of this study is to determine the effects of exercise training versus inactivity on mitochondrial function in muscle and muscle performance in people with mitochondrial myopathies.
Detailed description
Mitochondrial myopathies are caused by mutant mitochondrial DNA, genetic defects in parts of the mitochondrial DNA. These defects can include missing or deleted DNA that typically codes for certain proteins involved in energy production. These mutations cause individual mitochondria and the body on a whole to produce energy less efficiently. Because muscle cells require extensive energy to function properly, they are particularly impaired by mitochondrial dysfunction. The onset of most mitochondrial myopathies occurs before the age of 20. Initially a person may experience muscle weakness and fatigue during physical activity. Other symptoms may include limited eye mobility, heart arrhythmias, slurred speech, swallowing difficulties, and impaired movement.
There is no cure yet for mitochondrial myopathies, nor is there any adequate treatment to stall disease progression. Exercise, known to boost the production and function of mitochondria in healthy people, may reduce symptoms in people with mitochondrial myopathies by increasing the number and function of normal mitochondria in an individual muscle cell. The purpose of this study is to determine the effects of exercise training versus inactivity on the expression of normal and mutant mitochondrial DNA and on mitochondrial production within muscle cells in people with mitochondrial myopathies. The study will also assess how cell function, physical endurance, heart function, and quality of life are affected by exercise training and inactivity.
Participants in this 2-year study will first undergo physiological exercise testing, magnetic resonance imaging (MRI) of heart and skeletal muscles, a needle biopsy of muscle, and a questionnaire on quality of life. Participants will then be randomly assigned to partake in regular exercise training or no training for 6 months. After 6 months, all participants will undergo repeat testing of initial evaluations. Participants who had been in the exercising group will then switch to no exercise training for 6 months, and participants who had been in the non-exercising group will switch to regular exercise training for 6 months. The second 6-month period will also be followed by repeat testing of initial evaluations. Participants will then be encouraged to continue exercise training for an additional 1 year, with retesting at the end of the second year. Each of the four evaluations will take about 15 hours over 5 days.
Study design
- Primary purpose
- Treatment
- Allocation
- Randomised
- Intervention model
- Crossover
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 1 | Experimental | Behavioral: ExerciseParticipants will partake in regular exercise training for 6 months. After 6 months, they will switch to no exercise training for 6 months. Participants will then be encouraged to continue exercise training for an additional 1 year. |
| 2 | Experimental | Behavioral: ExerciseParticipants will not partake in regular exercise training for 6 months. After 6 months, they will switch to exercise training for 6 months. Participants will then be encouraged to continue exercise training for an additional 1 year. |
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- Diagnosis of mitochondrial myopathy
- Single-large scale deletions of mitochondrial DNA
- Point mutations in mitochondrial DNA
Key exclusion criteria (8 listed)
- Symptoms or electrocardiogram-generated signs of coronary artery disease
- Symptoms of congestive heart failure; peripheral vascular disease; or lung, kidney, or liver disease
- History of alcohol or substance abuse
- Metal implants or related devices that contraindicate MRI
- Current use of or require any medications that have significant systemic cardiovascular effects
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 |
|---|---|---|
| ExerciseRegular exercise training | Behavioural | 1, 2 |
Primary outcome
Changes in wild-type (normal), mutant, and total mitochondrial DNA copy number
Time frame: Measured at Week 26
Physiological measure of oxidative metabolism
Time frame: Measured at Week 26
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 May 2009.
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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.
Ronald Haller, MD principal investigator
University of Texas Southwestern Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Exercise in people with Mitochondrial Myopathy, run by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at 1 site in United States.
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 3 inclusion and 8 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: status not confirmed, as of the sponsor's last update on 19 May 2009. 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 United States. 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.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Ronald Haller, MD (214-345-4621, rhaller2@earthlink.net), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Changes in wild-type (normal), mutant, and total mitochondrial DNA copy number (time frame: Measured at Week 26). 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?
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 19 May 2009.