Understanding brain chemistry in patients with primary mitochondrial disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Evaluating KL1333 for treating primary mitochondrial disease

  This study is testing if a new drug called KL1333 can help adults with primary mitochondrial disease feel less tired and improve their physical abilities over 48 weeks.

  Recruiting at 37 sites Phase 2 Pharming Technologies B.V. · Orange, California and 54 other locations · NCT05650229

• Measuring disease progression in mitochondrial myopathy

  This study is trying to find better ways to track how primary mitochondrial myopathy changes over time in patients so that future treatments can be developed more effectively.

  Recruiting Children's Hospital of Philadelphia · Philadelphia, Pennsylvania · NCT05250375

• FaceSay: a computer program to help kids recognize facial expressions and improve social interactions

  A computer-based FaceSay program is tested to see if it helps survivors of pediatric brain tumors who have social difficulties see facial expressions better and relate more comfortably with peers.

  Recruiting Children's Hospital of Philadelphia · Philadelphia, Pennsylvania · NCT07923370

• Physiology-guided Epinephrine Dosing in Pediatric Cardiac Arrest

  This observational study looks at how a child’s body responds to epinephrine during in-hospital cardiac arrests to see if dosing can be guided by physiology.

  Recruiting at 22 sites Children's Hospital of Philadelphia · Orange, California and 21 other locations · NCT07890610

• Observation vs Upfront Surgery for Asymptomatic Kidney Stones in Children and Adults

  This trial tests whether watching asymptomatic kidney stones or performing upfront surgery is better for reducing life disruption in patients aged 6 and older.

  Recruiting at 2 sites Children's Hospital of Philadelphia · Irvine, California and 3 other locations · NCT07718802

• Heartsight helps caregivers of kids after cardiac arrest manage uncertainty and fear

  This pilot trial tests if the Heartsight information program is acceptable and helpful for caregivers of children who recently had a cardiac arrest.

  Recruiting Children's Hospital of Philadelphia · Philadelphia, Pennsylvania · NCT07707037

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.