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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.
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.
Duration: None beyond the imaging visit
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
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UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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