Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

Official Title
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Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease

Conditions
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Mitochondrial Disease

Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 65 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Mitochondrial Disease<br>Individuals with genetic diagnoses (nuclear or mitochondrial) of mitochondrial disease | |
| Unaffected<br>Healthy individuals, without mitochondrial disease | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Creatine Recovery Time |  | 15 minutes | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Phosphocreatine recovery time |  | 15 minutes | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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mitochondrial disease, magnetic resonance imaging, magnetic resonance spectroscopy, creatine, phosphocreatine