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RECRUITING
NCT06890520

Neurometabolic Profile of Individuals With Primary Mitochondrial Disease

Sponsor: Children's Hospital of Philadelphia

View on ClinicalTrials.gov

Summary

Primary Mitochondrial Disease (PMD) is a genetic neurometabolic disorder, leading to central nervous system degeneration and increased risk of early mortality. There is a strong link between the pathophysiology of mitochondrial disease and biomarkers related to the biochemistry of redox imbalance, involving the levels of glutathione. Investigators will use Magnetic Resonance Imaging and Spectroscopy to non-invasively measure glutathione and other chemicals in the brain to identify redox imbalance in patients with PMD.

Key Details

Gender

All

Age Range

8 Years - 75 Years

Study Type

OBSERVATIONAL

Enrollment

30

Start Date

2025-02-25

Completion Date

2029-01-01

Last Updated

2026-02-05

Healthy Volunteers

Yes

Locations (1)

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States