Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease
| Status: | Recruiting |
|---|---|
| Conditions: | Gastrointestinal |
| Therapuetic Areas: | Gastroenterology |
| Healthy: | No |
| Age Range: | 18 - 65 |
| Updated: | 8/11/2018 |
| Start Date: | May 2014 |
| End Date: | June 2019 |
| Contact: | Shana E McCormack, MD |
| Email: | mccormacks1@email.chop.edu |
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.
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.
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.
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.
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
We found this trial at
1
site
3451 Walnut St
Philadelphia, Pennsylvania 19104
Philadelphia, Pennsylvania 19104
1 (215) 898-5000
Principal Investigator: Shana E McCormack, MD
Univ of Pennsylvania Penn has a long and proud tradition of intellectual rigor and pursuit...
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