RECRUITING

Neurometabolic Profile of Individuals With Primary Mitochondrial Disease

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Neurometabolic Profile of Individuals With Primary Mitochondrial Disease

Quick Facts

Study Start:2025-02-25

Study Completion:2026-01-01

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT06890520

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:8 Years to 75 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:Yes

Standard Ages:CHILD, ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion 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 * Must be between 8 and 75 years, inclusive	* 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.

Inclusion Criteria

Exclusion 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
* Must be between 8 and 75 years, inclusive

* 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.

Contacts and Locations

Study Contact

Zarazuela Zolkipli-Cunningham

CONTACT

(267) 426-4961

mmfpclinicalresearch@chop.edu

Study Locations (Sites)

The Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104

United States

Collaborators and Investigators

Sponsor: Children's Hospital of Philadelphia

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2025-02-25

Study Completion Date2026-01-01

Study Record Updates

Study Start Date2025-02-25

Study Completion Date2026-01-01

Terms related to this study

Additional Relevant MeSH Terms

Primary Mitochondrial Disease