Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease

August 10, 2020 updated by: Shana McCormack, University of Pennsylvania

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.

Study Overview

Status

Completed

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 Type

Observational

Enrollment (Anticipated)

120

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19004
        • University of Pennsylvania

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years to 65 years (ADULT, OLDER_ADULT)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Two groups of subjects: 1) mitochondrial disease and 2) healthy individuals

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Mitochondrial Disease
Individuals with genetic diagnoses (nuclear or mitochondrial) of mitochondrial disease
Unaffected
Healthy individuals, without mitochondrial disease

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Creatine Recovery Time
Time Frame: 15 minutes
15 minutes

Secondary Outcome Measures

Outcome Measure
Time Frame
Phosphocreatine recovery time
Time Frame: 15 minutes
15 minutes

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

  • Principal Investigator: Shana E McCormack, MD, University of Pennsylvania

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

May 1, 2014

Primary Completion (ACTUAL)

June 30, 2020

Study Completion (ACTUAL)

June 30, 2020

Study Registration Dates

First Submitted

May 29, 2014

First Submitted That Met QC Criteria

May 31, 2014

First Posted (ESTIMATE)

June 3, 2014

Study Record Updates

Last Update Posted (ACTUAL)

August 11, 2020

Last Update Submitted That Met QC Criteria

August 10, 2020

Last Verified

August 1, 2020

More Information

Terms related to this study

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Mitochondrial Disease

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