Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease

Mitochondrial Disease Clinical Trial

Official title:

Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02154711
• Other study ID #: 819440
• Status: Completed
• Start date: May 2014
• Est. completion date: June 30, 2020

Study information

• Verified date: August 2020
• Source: University of Pennsylvania
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 120
• Est. completion date: June 30, 2020
• Est. primary completion date: June 30, 2020
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years to 65 Years

Eligibility

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

Related Conditions & MeSH terms

• Mitochondrial Disease
• Mitochondrial Diseases

Locations

Country	Name	City	State
United States	University of Pennsylvania	Philadelphia	Pennsylvania

Sponsors (1)

Lead Sponsor	Collaborator
University of Pennsylvania

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Creatine Recovery Time		15 minutes
Secondary	Phosphocreatine recovery time		15 minutes