Recruiting

Observational Study

Sponsor:

Children's Hospital of Philadelphia

Code:

NCT06890520

Conditions

Primary Mitochondrial Disease

Eligibility Criteria

Sex: All

Age: 8 - 70+

Healthy Volunteers: Accepted

Study Details

Brief 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.

Conditions

Primary Mitochondrial Disease

Study ID

NCT06890520

Start date

Feb 25, 2025

Status verified date

Feb, 2026

Completion date

Jan 1, 2029

Anticipated

Primary completion date

Jan 1, 2028

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 8 - 70+

Healthy Volunteers: Accepted

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.

Study Design

Enrollment

30 participants

Anticipated

Interventions and Outcome Measures

Arms

Genetically Confirmed Primary Mitochondrial Disease

Individuals with Genetically Confirmed Primary Mitochondrial Disease

Healthy Controls

Individuals who have no history of Primary Mitochondrial Disease

Primary outcome measure

  • Assess group differences in brain chemical levels in Genetically Confirmed Primary Mitochondrial Disease (GC-PMD) compared to healthy controls (HC) [ Time Frame: Approximately 1 day ]

Central Contacts and Locations

Central contacts

Zarazuela Zolkipli-Cunningham

(267) 426-4961mmfpclinicalresearch@chop.edu

Locations

The Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Zarazuela Zolkipli-Cunningham

267-426-4961mmfpclinicalresearch@chop.edu

More Information

Sponsor

Children's Hospital of Philadelphia

Last update posted

Feb 5, 2026

Last verified

Feb, 2026

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-08. This information was provided to ClinicalTrials.gov by Children's Hospital of Philadelphia on 2026-02-05.