Understanding brain chemistry in patients with primary mitochondrial disease
Neurometabolic Profile of Individuals With Primary Mitochondrial Disease
This study is trying to see if measuring certain brain chemicals can help doctors better understand and treat people with primary mitochondrial disease.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Ages | 8 Years to 75 Years |
| Sex | All |
| Sponsor | Children's Hospital of Philadelphia Academic / other |
| Locations | 1 site (Philadelphia, Pennsylvania) |
| Trial ID | NCT06890520 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on individuals with primary mitochondrial disease (PMD), a genetic disorder that affects the central nervous system. Researchers will utilize Magnetic Resonance Imaging and Spectroscopy to non-invasively assess levels of glutathione and other neurochemicals in the brain, aiming to identify redox imbalances associated with PMD. The study seeks to establish objective biomarkers of mitochondrial function, which are currently lacking. By understanding these biochemical changes, the study hopes to improve the management and treatment of PMD.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 8 to 75 with genetically confirmed primary mitochondrial disease who are receiving standard-of-care treatment.
Not a fit: Patients with contraindications for MRI or those unable to comply with research procedures may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better diagnostic and therapeutic strategies for patients with primary mitochondrial disease.
How similar studies have performed: While there is ongoing research in mitochondrial diseases, this specific approach using non-invasive imaging techniques to measure brain chemistry is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Philadelphia, Pennsylvania
- The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (Recruiting)
Study contacts
- Study coordinator: Zarazuela Zolkipli-Cunningham
- Email: mmfpclinicalresearch@chop.edu
- Phone: (267) 426-4961
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.