Neurometabolic Profile of Individuals With Primary Mitochondrial Disease
Children's Hospital of Philadelphia
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.
Description
Primary Mitochondrial Disease (PMD) is a genetic neurometabolic disorder, leading to the degeneration of the central nervous system (CNS) and increased risk of early mortality. PMD can be caused by mutations in several genes in the mitochondrial DNA as well as nuclear DNA. Although a rare disease, PMD can significantly impact quality of life, increasing healthcare costs and caregiver burden. There is a lack of non-invasive, validated, and objective markers of mitochondrial function. However, there is a strong link between the pathophysiology of mitochondrial disease and biomarkers related to t…
Eligibility
- Age range
- 8–75 years
- Sex
- All
- Healthy volunteers
- Yes
Inclusion Criteria: * 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 Inclusion Criteria for Healthy Controls: * Must be between 8 and 75 years, inclusive Exclusion Criteria: * 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 no…
Location
- The Children's Hospital of PhiladelphiaPhiladelphia, Pennsylvania