RecruitingNCT06890520

Neurometabolic Profile of Individuals With Primary Mitochondrial Disease


Sponsor

Children's Hospital of Philadelphia

Enrollment

30 participants

Start Date

Feb 25, 2025

Study Type

OBSERVATIONAL

Conditions

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.


Eligibility

Min Age: 8 YearsMax Age: 75 Years

Inclusion Criteria4

  • 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

Exclusion Criteria10

  • 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.

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Locations(1)

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

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NCT06890520


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