Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease

University of Pennsylvania

Status

Completed

Conditions

Mitochondrial Disease

Study type

Observational

Funder types

Other

Identifiers

NCT02154711

819440

Details and patient eligibility

About

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.

Full 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.

Enrollment

40 patients

Sex

All

Ages

18 to 65 years old

Volunteers

Accepts Healthy Volunteers

Inclusion and exclusion criteria

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: