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CrCest Study in Primary Mitochondrial Disease

NCT04734626 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 230

Last updated 2026-01-14

No results posted yet for this study

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.

Conditions

  • Mitochondrial Diseases

Interventions

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

Sponsors & Collaborators

  • National Institutes of Health (NIH)

    collaborator NIH

  • National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

    collaborator NIH

  • Children's Hospital of Philadelphia

    lead OTHER

Principal Investigators

  • Zarazuela Zolkipli Cunningham, MBChB MRCP · Children's Hospital of Phiadelphia

Eligibility

Min Age
7 Years
Max Age
75 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-05-25
Primary Completion
2028-12-31
Completion
2028-12-31

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04734626 on ClinicalTrials.gov