Actively Recruiting
Neurometabolic Profile of Individuals With Primary Mitochondrial Disease
Led by Children's Hospital of Philadelphia · Updated on 2026-02-05
30
Participants Needed
1
Research Sites
200 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Neurometabolic Profile of Individuals With Primary Mitochondrial Disease
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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 (healthy controls)
You will not qualify if you...
- MRI contraindications
- Inability to fully comply with research procedures
- Active self-reported alcohol and/or substance abuse, including tobacco-use
- Presence of pacemaker, metal-based medical or non-medical devices/implants, or non-removable metal objects (e.g., body piercings, jewelry) that cannot be cleared through radiologic evaluation
- History of intraocular injury or fragment in or around the orbit that cannot be cleared radiologically
- History of bullet, shrapnel, or stabbing wounds that cannot be cleared radiologically
- Past or current employment involving exposure to metal grinders
- Any medical condition that interferes with safe study completion as judged by the principal investigator
- Female participants who are knowingly pregnant or suspect pregnancy
- Lack of cognitive or physical ability to lie still during MRI scanning without sedation or contrast
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
Research Team
Z
Zarazuela Zolkipli-Cunningham
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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