Neurometabolic Profile of Individuals With Primary Mitochondrial Disease
NCT06890520
This study is recruiting at 1 US site in 1 state, according to its ClinicalTrials.gov record last updated .
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.
Shortened from the sponsor's brief summary. View official record on ClinicalTrials.gov
Conditions studied
- Primary Mitochondrial Disease
Eligibility basics and study details
- Study type
- Observational
- Phase
- Not applicable
- Ages
- 8 to 75 years
- Sex
- All
- Healthy volunteers
- Accepted
- Sponsor
- Children's Hospital of Philadelphia
- Last updated on ClinicalTrials.gov
- February 5, 2026
These are the basic criteria only. The full inclusion and exclusion criteria are on the official record, and the study team decides who can take part.
US recruiting sites
Pennsylvania · 1
- The Children's Hospital of Philadelphia · Philadelphia, PA
Source: ClinicalTrials.gov, data processed . Recruiting US sites filtered by distance and site status; summaries shortened.