CrCest Study in Primary Mitochondrial Disease
- Conditions
- Mitochondrial Diseases
- Interventions
- Diagnostic Test: Creatine Chemical Exchange Saturation Transfer (CrCEST) Imaging Sequence
- Registration Number
- NCT04734626
- Lead Sponsor
- Children's Hospital of Philadelphia
- 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.
Recruitment & Eligibility
- Status
- ENROLLING_BY_INVITATION
- Sex
- All
- Target Recruitment
- 230
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Mitochondrial Disease Creatine Chemical Exchange Saturation Transfer (CrCEST) Imaging Sequence Individuals with suspected (based on clinical presentation) or definite genetic mitochondrial disease Healthy Controls/Volunteers Creatine Chemical Exchange Saturation Transfer (CrCEST) Imaging Sequence Individuals with no history of suspected (based on clinical presentation) or definite genetic mitochondrial disease
- Primary Outcome Measures
Name Time Method Post-exercise CrCEST recovery time (seconds) During the MRI The time it takes after the exercise occurs to recover CrCEST
- Secondary Outcome Measures
Name Time Method Resting CrCEST During the MRI Amount of CrCEST prior to exercise
Fat-fraction During the MRI n-point Dixon, expressed as a percentage of the total area
Muscle Lipid Content During the MRI Includes both Intramyocellular lipid (IMCL) and extramyocellular lipids (EMCL) content, both expressed in arbitrary units relative to water signal and relative to creatine
Trial Locations
- Locations (1)
Children's Hospital of Philadelphia
🇺🇸Philadelphia, Pennsylvania, United States