Status:
RECRUITING
Neurometabolic Profile of Individuals With Primary Mitochondrial Disease
Lead Sponsor:
Children's Hospital of Philadelphia
Conditions:
Primary Mitochondrial Disease
Eligibility:
All Genders
8-75 years
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 patho...
Detailed Description
Primary Mitochondrial Disease (PMD) is a genetic neurometabolic disorder, leading to the degeneration of the central nervous system (CNS) and increased risk of early mortality. PMD can be caused by mu...
Eligibility Criteria
Inclusion
- 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
- 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.
Key Trial Info
Start Date :
February 25 2025
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
January 1 2026
Estimated Enrollment :
30 Patients enrolled
Trial Details
Trial ID
NCT06890520
Start Date
February 25 2025
End Date
January 1 2026
Last Update
March 25 2025
Active Locations (1)
Enter a location and click search to find clinical trials sorted by distance.
1
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104