Neurometabolic Profile of Individuals With Primary Mitochondrial Disease

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.

NCT Number	NCT06890520
Lead Sponsor	Children's Hospital of Philadelphia
Conditions	Primary Mitochondrial Disease
Enrollment	30 participants
Start Date	2025-02-25
Primary Completion	2028-01-01 (estimated)
Study Completion	2029-01-01 (estimated)
Updated on ClinicalTrials.gov	2026-02-05