Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease

NCT02154711 | Completed

• 1 other identifier: 819440
• Study Type: observational
• Target: 40
• Locations: 1 country
• Sites: 1

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.

Conditions

Mitochondrial Disease

Keywords

mitochondrial disease; magnetic resonance imaging; magnetic resonance spectroscopy; creatine; phosphocreatine

Outcome Measures

Primary Outcomes (1)

• Creatine Recovery Time

  15 minutes

Secondary Outcomes (1)

• Phosphocreatine recovery time

  15 minutes

Study Arms (2)

Mitochondrial Disease

Individuals with genetic diagnoses (nuclear or mitochondrial) of mitochondrial disease

Unaffected

Healthy individuals, without mitochondrial disease

Eligibility Criteria

• Age: 18 Years - 65 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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

You may not qualify if:

• Diabetes
• Alcohol/substance abuse
• Smoking
• Use of any investigational agents within 4 weeks of enrollment
• Any contraindication to MRI scanning
• Group 2) Healthy Individuals:
• 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
• Carry a diagnosis of mitochondrial disease
• Have a first-degree relative with a diagnosis of mitochondrial disease
• Diabetes
• Alcohol/substance abuse

Sponsors & Collaborators

• University of Pennsylvania: lead

Study Sites (1)

University of Pennsylvania

Philadelphia, Pennsylvania, 19004, United States

Location

Biospecimen

Retention: SAMPLES WITHOUT DNA

blood

MeSH Terms

Conditions

Mitochondrial Diseases

Condition Hierarchy (Ancestors)

Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Shana E McCormack, MD

  University of Pennsylvania

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Instructor in Pediatrics

Study Record Dates

• First Submitted: May 29, 2014
• First Posted: June 3, 2014
• Study Start: May 1, 2014
• Primary Completion: June 30, 2020
• Study Completion: June 30, 2020
• Last Updated: August 29, 2024

Record last verified: 2024-08

Locations

US (1)