NCT04734626

CrCest Study in Primary Mitochondrial Disease

Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease

• Status: Enrolling By Invitation
• Phase: —
• Study type: Observational
• Enrollment: 230 (estimated)
• Sponsor: Children's Hospital of Philadelphia · Academic / Other
• Sex: All
• Age: 7 Years – 75 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Mitochondrial Diseases

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Creatine Chemical Exchange Saturation Transfer (CrCEST) Imaging Sequence	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

Timeline

• Start date: 2021-05-25
• Primary completion: 2028-12-31
• Completion: 2028-12-31
• First posted: 2021-02-02
• Last updated: 2026-01-14

Locations

1 site across 1 country: United States