Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease

Sponsor

University of Pennsylvania (Other)

Overall Status

Completed

CT.gov ID

NCT02154711

Collaborator

(none)

120

Enrollment

Location

Duration (Months)

1.6

Patients Per Site Per Month

Study Details

Study Description

Brief Summary

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.

Condition or Disease	Intervention/Treatment	Phase
Mitochondrial Disease

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 Design

Study Type:

Observational

Anticipated Enrollment :

120 participants

Observational Model:

Case-Control

Time Perspective:

Cross-Sectional

Official Title:

Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease

Study Start Date :

May 1, 2014

Actual Primary Completion Date :

Jun 30, 2020

Actual Study Completion Date :

Jun 30, 2020

Arms and Interventions

Arm	Intervention/Treatment
Mitochondrial Disease Individuals with genetic diagnoses (nuclear or mitochondrial) of mitochondrial disease
Unaffected Healthy individuals, without mitochondrial disease

Outcome Measures

Primary Outcome Measures

Creatine Recovery Time [15 minutes]

Secondary Outcome Measures

Phosphocreatine recovery time [15 minutes]

Eligibility Criteria

Criteria

Ages Eligible for Study:

18 Years to 65 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Yes

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