Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Mitochondrial Diseases
- Sponsor
- Children's Hospital of Philadelphia
- Enrollment
- 230
- Locations
- 1
- Primary Endpoint
- Post-exercise CrCEST recovery time (seconds)
- Status
- Enrolling By Invitation
- Last Updated
- 3 months ago
Overview
Brief Summary
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.
Detailed Description
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.
Investigators
Eligibility Criteria
Inclusion Criteria
- •(Mitochondrial Disease Patients):
- •Males and females, between the ages of 7 and 75, inclusive
- •Suspected (based on clinical presentation) or definite genetic mitochondrial disease diagnosis (i.e., genetic mutations in the constituents of the mitochondrial respiratory chain and/or genetic mutations that are likely to affect mitochondrial function)
- •Clinically eligible for an MRI of the lower leg. We are conducting clinical leg MRI scans of patients with definite mitochondrial disease for indications that include muscle weakness and muscle fatigue.
- •Able to perform sub-maximal ankle dorsiflexion leg exercise during the MRI study
- •Inclusion Criteria (Healthy Controls):
- •Males and females, between the ages of 7 and 75 years, inclusive
- •Able to perform sub-maximal ankle dorsiflexion leg exercise during the MRI study
- •Inclusion Criteria (Evaluable Healthy Controls and Cases for Data Analysis):
- •To note, we will merge coded datasets from Institutional Review Board (IRB) #15-012445, IRB #16-013364, and IRB #08-006177 with data from this study as part of our data analysis plan.
Exclusion Criteria
- •(Mitochondrial Disease Patients and Healthy Controls):
- •In the investigator's opinion, inability to fully comply with research procedures
- •Active alcohol and/or substance abuse, including tobacco-use
- •A pacemaker; any metal-based medical or non-medical devices/implants; any non-removable metal-based object (e.g., body piercings, jewelry, etc.) that cannot be cleared through radiologic evaluation
- •Any history of intraocular injury or fragment in or around the orbit that cannot be cleared through radiologic evaluation
- •Any history of bullet, shrapnel, or stabbing wounds that cannot be cleared through radiologic evaluation
- •Past or current employment involving (or exposure to) a metal grinder (e.g., at a construction worksite)
- •Claustrophobia or any known medical conditions which can be exacerbated by stress, anxiety, or panic attacks triggered by enclosed spaces
- •Any potentially interfering clinical MRI contrast agents, as reviewed with the radiology team
- •At the discretion of the principal investigator (PI), any medical condition that will interfere with or prevent the safe completion of the study
Outcomes
Primary Outcomes
Post-exercise CrCEST recovery time (seconds)
Time Frame: During the MRI
The time it takes after the exercise occurs to recover CrCEST
Secondary Outcomes
- Resting CrCEST(During the MRI)
- Fat-fraction(During the MRI)
- Muscle Lipid Content(During the MRI)