Neurometabolic Profile of Individuals With Primary Mitochondrial Disease

Part of paid clinical trials in Philadelphia, Pennsylvania.

Sponsor
Children's Hospital of Philadelphia
Study ID
NCT06890520
Status
Recruiting
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Conditions

  • Primary Mitochondrial Disease

Eligibility Criteria

Sex
ALL
Age
8 Years - 75 Years
Healthy Volunteers
Accepted

Study Details

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.

Key Dates

Start date
Feb 25, 2025
Status verified
Feb 2026
Primary completion
Jan 1, 2028
Completion
Jan 1, 2029

Study Design

Enrollment
30 participants (estimated)

Arms

  • Arm: Genetically Confirmed Primary Mitochondrial Disease
    Individuals with Genetically Confirmed Primary Mitochondrial Disease
  • Arm: 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

Locations (1)

FacilityCityStateZIPSite coordinators
The Children's Hospital of PhiladelphiaPhiladelphiaPennsylvania19104
Zarazuela Zolkipli-Cunningham
[email protected]
267-426-4961

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By research site
The Children's Hospital of Philadelphia· Philadelphia, PA

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