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.

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Key information

Conditions

Mitochondrial Disease Metabolic Diseases Mitochondrial Diseases Nutritional and Metabolic Diseases

Age range

18 year–65 year

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Pennsylvania

Philadelphia, Pennsylvania, 19004, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

Creatine Recovery Time

Time frame: 15 minutes

Secondary outcomes

Phosphocreatine recovery time

Time frame: 15 minutes

Sponsors and collaborators

Lead sponsor

University of Pennsylvania

Other

Registry information

Important dates

Study start: 2014
Primary completion: 2020
Study completion: 2020
First posted: Jun 3, 2014
Registry last updated: Aug 29, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed