Neurometabolic Profile of Individuals With Primary Mitochondrial Disease

Launched by CHILDREN'S HOSPITAL OF PHILADELPHIA · Mar 17, 2025

Keywords

ClinConnect Summary

This clinical trial is studying Primary Mitochondrial Disease (PMD), a genetic condition that affects how our cells produce energy and can lead to serious health issues, including problems with the brain and a higher risk of early death. Researchers want to learn more about how this disease affects certain brain chemicals, particularly glutathione, which plays a role in keeping our cells healthy. They will use a special imaging technique called Magnetic Resonance Imaging (MRI) to look at these brain chemicals without needing any surgery or injections.

To participate in this study, individuals need to be between 8 and 75 years old and have a confirmed diagnosis of PMD. They should also be receiving standard treatments, which may include supplements that help boost glutathione levels. Healthy individuals within the same age range can also join the study as a comparison group. Participants will need to lie still during the MRI scans, which are safe and do not involve any contrast material or sedation. It's important to note that some people may not be eligible due to certain health conditions or if they have metal implants that could interfere with the MRI. Overall, this study aims to better understand PMD and may help improve future treatments for those affected by the disease.

Gender

ALL

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.