Home › NCT06890520
Neurometabolic Profile of Individuals With Primary Mitochondrial Disease
Who can join
Ages 8 to 75 · All sexes · Healthy volunteers welcome
Full eligibility criteria
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 non-medical devices/implants; any non-removable metal-based object (e.g., body piercings, jewelry, etc.) that cannot be cleared through radiologic evaluation * Any history of intraocular injury or fragment in or around the orbit that cannot be cleared through radiologic evaluation * Any history of bullet, shrapnel, or stabbing wounds that cannot be cleared through radiologic evaluation * Past or current employment involving (or exposure to) a metal grinder (e.g., at a construction worksite) * At the discretion of the principal investigator (PI), any medical condition that will interfere with or prevent the safe completion of the study * Any female participant with childbearing potential who is knowingly pregnant or suspects that she is pregnant will be removed from the study. (Although there are no known risks of MRI on pregnant females or fetuses, there is a possibility of yet undiscovered pregnancy-related risks. Since there is no direct benefit from participating in this protocol for pregnant females, they will be excluded to ensure their long-term safety and that of their unborn fetus.) * To note, for this protocol, participants are instructed to lie still in the MRI scanner; there is no contrast or sedation. Participants who do not possess the cognitive and / or physical abilities to perform these procedures will not be included.
About the study
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.
Sponsor: Children's Hospital of Philadelphia · Participants: 30 · Started: Feb 25, 2025
Contact the study team
- Zarazuela Zolkipli-Cunningham · Phone: (267) 426-4961
Official record on ClinicalTrials.gov — NCT06890520
Locations in the U.S.
| Pennsylvania | The Children's Hospital of Philadelphia, Philadelphia |
From ClinicalTrials.gov, data retrieved Oct 3, 2026. Each study sets its own eligibility; the study team decides who can join.