Neurometabolic Profile of Individuals With Primary Mitochondrial Disease
ConditionPrimary Mitochondrial Disease
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age8-75
SponsorChildren's Hospital of Philadelphia
About this trial
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.
Eligibility criteria
Qualifiers
Must be between 8 and 75 years, inclusive
Genetically confirmed primary mitochondrial disease
Receiving standard-of-care treatment including mitochondrial supplements that may include N-acetylcysteine (NAC), a precursor of glutathione
Must be between 8 and 75 years, inclusive
Disqualifiers
MRI contraindications
In the investigator's opinion, inability to fully comply with research procedures
Active self-reported alcohol and/or substance abuse, including tobacco-use
A pacemaker; any metal-based medical or non-medical devices/implants; any non-removable metal-based object (e.g., body piercings, jewelry, etc.) that cannot be cleared through radiologic evaluation
Trial design
Treatments tested in this trial
- Not listed
Trial groups
30 Participants
are grouped into 2 trial groupsSponsors and collaborators
Source ClinicalTrials.gov