Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02154711

Enrollment

Registered

2014-06-03

Start date

2014-05-31

Completion date

2020-06-30

Last updated

2024-08-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Mitochondrial Disease

Keywords

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

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.

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.

Interventions

None listed

Study design

Observational model

CASE_CONTROL

Time perspective

CROSS_SECTIONAL

Eligibility

Sex/Gender

ALL

Age

18 Years to 65 Years

Healthy volunteers

Yes

Inclusion 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

Design outcomes

Primary

Measure	Time frame
Creatine Recovery Time	15 minutes

Secondary

Measure	Time frame
Phosphocreatine recovery time	15 minutes

Countries

United States

Outcome results