Neurometabolic Profile of Individuals With Primary Mitochondrial Disease

Recruiting Observational Study
Primary Mitochondrial Disease
No Placebo Group Every participant receives an active treatment — no one gets a placebo. Healthy Volunteers Welcome You do not need to have the condition being studied to take part. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Age
8 – 75
Sex
Any
Study type
Observational
Participants needed
30 (estimated)
Sponsor
Children's Hospital of Philadelphia · Other
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About This Trial
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 Spectrosco…
Trial Locations
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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 Contro…
Contacts

Zarazuela Zolkipli-Cunningham

(267) 426-4961

mmfpclinicalresearch@chop.edu

CONTACT