Mitochondrial Disease and ATP Production Study

31P NMR Evaluation of ATP Production in Individuals With Mitochondrial Disease

Protocol Description

This investigation uses new techniques to study the chemicals that supply energy to the muscles of children with mitochondrial disease. More specifically it uses an imaging technique known as phosphorus-31 nuclear magnetic resonance spectroscopy, or 31P NMR, to evaluate production of ATP (adenosine triphosphate), an energy storage molecule in cells. Mitochondrial diseases are rare and occur when one or more genetic mutations result in mitochondria failing to create enough energy to support the body, causing damage to the brain, heart, kidneys, muscles, or other organ systems.

Eligibility Criteria

The study accepts male and female patients, ages 7 to 18, who have mitrochondrial disease.
Males and Females: Ages 7 to 18


Following an initial eligibility screening with their doctors, enrolled participants will visit the Magnetic Resonance Research Center at UPMC Presbyterian for the imaging procedure, which involves the child laying still and doing a practiced kicking motion as directed by the research technician.
Visits: 1
Duration: None beyond the imaging visit

Status: Enrolling by Invitation

Additional Information

Medical Genetics Research

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact:
Jennifer Baker