- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT02154711
Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease
The purpose of the study is to use a new research imaging technique, a kind of magnetic resonance imaging (MRI), to measure important metabolic features of muscle, including mitochondrial function, in people with mitochondrial disease and in healthy individuals. (Mitochondria are tiny organelles that generate energy for the body.)
It is hoped that this new strategy will help physicians to understand better the health problems of people with mitochondrial disease. Eventually, this could lead to better diagnostic and treatment approaches.
Study Overview
Status
Conditions
Detailed Description
There are two study-related visits.
The first visit is a "screening" visit to ensure eligibility. This includes fasting blood tests. The second visit is an MRI scanning session. This also takes around 2 - 3 hours, with no more than 1.5 hours spent in the actual MRI machine. It may be possible to complete these two visits on the same day. Otherwise, the MRI session should occur within 3 months of the screening visit. In addition, an optional physical capacity visit will occur on the same day as the MRI session.
Study Type
Enrollment (Anticipated)
Contacts and Locations
Study Locations
-
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Pennsylvania
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Philadelphia, Pennsylvania, United States, 19004
- University of Pennsylvania
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-
Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Sampling Method
Study Population
Description
Group 1) Mitochondrial Disease:
Inclusion Criteria:
- Genetic diagnosis of mitochondrial disease
- Be able to perform sub-maximal leg exercise for several minutes
- Be able to provide written, informed consent
- Cognitively and medically stable and able to comply with study procedures
- Able to fast for 4 hours prior to blood draw and/or MRI scanning
- Be willing to stop taking any over-the-counter vitamins and supplements that are neither prescribed nor recommend by their physician for 2 weeks prior to MRI scanning
Exclusion Criteria:
- Diabetes
- Alcohol/substance abuse
- Smoking
- Use of any investigational agents within 4 weeks of enrollment
- Any contraindication to MRI scanning
Group 2) Healthy Individuals:
Inclusion Criteria:
- Be able to perform sub-maximal leg exercise for several minutes
- Be able to provide written, informed consent
- Cognitively and medically stable and able to comply with study procedures
- Able to fast for 4 hours prior to blood draw and/or MRI scanning
- Be willing to stop taking any over-the-counter vitamins and supplements that are neither prescribed nor recommend by their physician for 2 weeks prior to MRI scanning
Exclusion Criteria:
- Carry a diagnosis of mitochondrial disease
- Have a first-degree relative with a diagnosis of mitochondrial disease
- Diabetes
- Alcohol/substance abuse
- Smoking
- Use of any investigational agents within 4 weeks of enrollment
- Any contraindication to MRI scanning
Study Plan
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
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Mitochondrial Disease
Individuals with genetic diagnoses (nuclear or mitochondrial) of mitochondrial disease
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Unaffected
Healthy individuals, without mitochondrial disease
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Creatine Recovery Time
Time Frame: 15 minutes
|
15 minutes
|
Secondary Outcome Measures
Outcome Measure |
Time Frame |
---|---|
Phosphocreatine recovery time
Time Frame: 15 minutes
|
15 minutes
|
Collaborators and Investigators
Sponsor
Investigators
- Principal Investigator: Shana E McCormack, MD, University of Pennsylvania
Study record dates
Study Major Dates
Study Start
Primary Completion (ACTUAL)
Study Completion (ACTUAL)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (ESTIMATE)
Study Record Updates
Last Update Posted (ACTUAL)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- 819440
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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