Clinical trial NCT02154711: Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease
Official title: Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Mitochondrial Disease
Keywords: mitochondrial disease
magnetic resonance imaging
magnetic resonance spectroscopy
creatine
phosphocreatine
Lead sponsor: University of Pennsylvania
Sponsor class: OTHER
First posted: 2014-06-03
Enrollment: 40
Sex: ALL
Minimum age (years): 18
Maximum age (years): 65
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Two groups of subjects: 1) mitochondrial disease and 2) healthy individuals

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.

Eligibility 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

Primary outcomes:
measure: Creatine Recovery Time
timeFrame: 15 minutes
Secondary outcomes:
measure: Phosphocreatine recovery time
timeFrame: 15 minutes
Other outcomes:
Locations:
city: Philadelphia
country: United States
facility: University of Pennsylvania
state: Pennsylvania
Study officials:
affiliation: University of Pennsylvania
name: Shana E McCormack, MD
role: PRINCIPAL_INVESTIGATOR
References: