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Neurometabolic Profile of Individuals With Primary Mitochondrial Disease
Sponsor: Children's Hospital of Philadelphia
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
Conditions
Locations (1)
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States