CrCest Study in Primary Mitochondrial Disease

Part of paid clinical trials in Philadelphia, Pennsylvania.

Sponsor
Children's Hospital of Philadelphia
Study ID
NCT04734626
Status
Enrolling By Invitation

Conditions

  • Mitochondrial Diseases

Eligibility Criteria

Sex
ALL
Age
7 Years - 75 Years
Healthy Volunteers
Not accepted

Interventions

  • Creatine Chemical Exchange Saturation Transfer (CrCEST) Imaging Sequence — DIAGNOSTIC_TEST
    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

Study Details

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.

Key Dates

Start date
May 25, 2021
Status verified
Jan 2026
Primary completion
Dec 31, 2028
Completion
Dec 31, 2028

Study Design

Enrollment
230 participants (estimated)

Arms

  • Arm: Mitochondrial Disease
    Individuals with suspected (based on clinical presentation) or definite genetic mitochondrial disease
  • Arm: Healthy Controls/Volunteers
    Individuals with no history of suspected (based on clinical presentation) or definite genetic mitochondrial disease

Primary Outcome Measure

Post-exercise CrCEST recovery time (seconds) [ Time Frame: During the MRI ]

Locations (1)

FacilityCityStateZIPSite coordinators
Children's Hospital of PhiladelphiaPhiladelphiaPennsylvania19104-

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