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CrCest Study in Primary Mitochondrial Disease | Clinical Trials | Clareo Health

ENROLLING_BY_INVITATION

CrCest Study in Primary Mitochondrial Disease

Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease

NCT04734626•Children's Hospital of Philadelphia

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.

Eligibility

Age

7 - 75 years

Sex

ALL

Healthy Volunteers

Inclusion Criteria

•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
•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
•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.
•Complete and evaluable healthy control and cases from IRB #15-012445, IRB #16-013364, and IRB #08-006177

Exclusion Criteria

•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
•Any female participant with childbearing potential who is knowingly pregnant or suspects that she is pregnant will be removed from the study. (Although there are no known risks of MRI on pregnant females or fetuses, there is a possibility of yet undiscovered pregnancy-related risks. Since there is no direct benefit from participating in this protocol for pregnant females, they will be excluded to ensure their long-term safety and that of their unborn fetus.)
+2 more criteria

Locations (1)

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Key Dates

Start Date

May 25, 2021

Primary Completion Date

December 31, 2028

Completion Date

December 31, 2028

Last Updated

January 14, 2026

Enrollment

230

ESTIMATED participants

Conditions

Mitochondrial Diseases

Interventions

Creatine Chemical Exchange Saturation Transfer (CrCEST) Imaging Sequence

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Data Source & Attribution

This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.

ClinicalTrials.gov last update: January 14, 2026Data synced to Clareo: March 29, 2026

Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.

Neither the United States Government nor Clareo Health make any warranties regarding the data. Check ClinicalTrials.gov frequently for updates.

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CrCest Study in Primary Mitochondrial Disease

Inclusion Criteria

Exclusion Criteria

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