The purpose of this study is to perform a "muscle phenotyping" magnetic resonance imaging (MRI) assessment in patients receiving clinical care at the Children's Hospital of Philadelphia (CHOP) for mitochondrial disease that is either suspected (based on clinical presentation) or has a definite genetic diagnosis. The MRI assessment quantifies skeletal muscle oxidative phosphorylation (OXPHOS) capacity. Investigators hope that this study will contribute to our current knowledge of mitochondrial diseases and this study will help create a new diagnostic tool for use in both clinical care and in clinical trials.
This research study visit will occur on the same day as the participants clinically scheduled MRI. The clinically indicated and study-specific scanning time will not exceed 120 minutes. During the study visits: * A study team member will review inclusion and exclusion criteria with the participant * A study team member will review medical history review with the participant * A safety assessment will occur prior to study procedures * Study MRI scan * During which the participant will use an MRI-safe machine to stimulate exercise, similar to pressing a gas pedal If eligible participants return to CHOP for future clinical imaging, we will also request a study-specific MRI assessment.
Study Type
OBSERVATIONAL
Enrollment
230
CrCEST be used to assess creatine distribution and concentrations in muscle (lower extremity), both at rest and after recovery from a brief foot-pedal depression exercise
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
Post-exercise CrCEST recovery time (seconds)
The time it takes after the exercise occurs to recover CrCEST
Time frame: During the MRI
Resting CrCEST
Amount of CrCEST prior to exercise
Time frame: During the MRI
Muscle Lipid Content
Includes both Intramyocellular lipid (IMCL) and extramyocellular lipids (EMCL) content, both expressed in arbitrary units relative to water signal and relative to creatine
Time frame: During the MRI
Fat-fraction
n-point Dixon, expressed as a percentage of the total area
Time frame: During the MRI
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.