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Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease

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ClinicalTrials.gov Identifier: NCT02154711
Recruitment Status : Recruiting
First Posted : June 3, 2014
Last Update Posted : August 9, 2018
Sponsor:
Information provided by (Responsible Party):
Shana McCormack, University of Pennsylvania

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
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 Type : Observational
Estimated 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 2014
Estimated Primary Completion Date : June 2019
Estimated Study Completion Date : June 2019


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



Primary Outcome Measures :
  1. Creatine Recovery Time [ Time Frame: 15 minutes ]

Secondary Outcome Measures :
  1. Phosphocreatine recovery time [ Time Frame: 15 minutes ]

Biospecimen Retention:   Samples Without DNA
blood


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 65 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Two groups of subjects: 1) mitochondrial disease and 2) healthy individuals
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:

  • 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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02154711


Contacts
Contact: Shana E McCormack, MD mccormacks1@email.chop.edu

Locations
United States, Pennsylvania
University of Pennsylvania Recruiting
Philadelphia, Pennsylvania, United States, 19004
Contact: Shana E McCormack, MD       mccormacks1@email.chop.edu   
Principal Investigator: Shana E McCormack, MD         
Sponsors and Collaborators
University of Pennsylvania
Investigators
Principal Investigator: Shana E McCormack, MD University of Pennsylvania

Responsible Party: Shana McCormack, Instructor in Pediatrics, University of Pennsylvania
ClinicalTrials.gov Identifier: NCT02154711     History of Changes
Other Study ID Numbers: 819440
First Posted: June 3, 2014    Key Record Dates
Last Update Posted: August 9, 2018
Last Verified: August 2018

Keywords provided by Shana McCormack, University of Pennsylvania:
mitochondrial disease
magnetic resonance imaging
magnetic resonance spectroscopy
creatine
phosphocreatine

Additional relevant MeSH terms:
Mitochondrial Diseases
Metabolic Diseases