Neurometabolic Profile of Individuals With Primary Mitochondrial Disease
NCT06890520 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 30
Last updated 2026-02-05
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.
Conditions
- Primary Mitochondrial Disease
Sponsors & Collaborators
-
Children's Hospital of Philadelphia
lead OTHER
Eligibility
- Min Age
- 8 Years
- Max Age
- 75 Years
- Sex
- ALL
- Healthy Volunteers
- Yes
Timeline & Regulatory
- Start
- 2025-02-25
- Primary Completion
- 2028-01-01
- Completion
- 2029-01-01
Countries
- United States
Study Locations
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