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
This trial accepts healthy volunteersQualifiers
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 population
This is an observational study among two study population groups: genetically confirmed PMD patients and healthy volunteers.
Trial design
Design model
Case-control
Time perspective
Cross-sectional
Treatments tested in this trial
Not listed
Trial groups
30 Participants
are grouped into 2 trial groupsGroup A: Genetically Confirmed Primary Mitochondrial Disease
Group B: Healthy Controls
Trial outcomes
Primary outcomes
1
Assess group differences in brain chemical levels in Genetically Confirmed Primary Mitochondrial Disease (GC-PMD) compared to healthy controls (HC)
Metabolite concentrations from H Magnetic Resonance Spectroscopy (MRS) will be processed in Osprey followed by linear combination modelling of MRS spectra. Water-scaled metabolite estimates will be calculated and corrected for tissue composition and relaxation effects to generate metabolite concentrations.
Time frame
Approximately 1 daySecondary outcomes
1
Change in Plasma glutathione levels in Genetically Confirmed Primary Mitochondrial Disease (GC-PMD) compared to healthy controls (HC)
Analyze and report plasma glutathione levels (µM) in affected cases versus healthy controls. Glutathione is an antioxidant that protects cells from oxidative stress and detoxification. Differences between the two groups is anticipated.
Time frame
Approximately 1 day2
Change in Corticol Thickness in Genetically Confirmed Primary Mitochondrial Disease (GC-PMD) compared to healthy controls (HC)
Morphometric analyses and reporting of cortical thickness, surface area, and volume in affected cases versus healthy controls. Reporting cortical thickness involves using structural magnetic resonance imaging (MRI) to measure the width of the gray matter of the cortex, typically in millimeters, and analyzing regional variations to asses brain structure and function.
Time frame
Approximately 1 day3
Change in Cerebral Blood Flow in Genetically Confirmed Primary Mitochondrial Disease (GC-PMD) compared to healthy controls (HC)
Cerebral blood flow imaging (using spin labeling or similar), analyses, and reporting in affected cases versus healthy controls. Studying blood flow in the brain can assess for cerebrovascular disease.
Time frame
Approximately 1 daySponsors and contacts
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Source ClinicalTrials.gov