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The goal of this study is to better understand the therapeutic effects of triheptanoin oil (C7 oil) in treatment of disorders of energy metabolism, including mitochondrial fat oxidation and glycogenoses.
The study is open to participants of both genders, ages 1 month through adulthood, who have been diagnosed with an inherited disorder of fatty acid oxidation and energy metabolism.
Males and Females: Age 1 month through adulthood
Participants will receive a complete metabolic evaluation, including blood sampling and heart monitoring at the study onset, after which they will be prescribed C7 oil and diet modification guidelines to maintain appropriate caloric intake and balance. Participants will closely monitor weight in a weekly journal and will be contacted at intervals by researchers. Blood tests will be done at 2, 6, 12 and 18 months.
Visits: 2 to 5
Duration: 18 months, and if the drug is found to be therapeutic, enrollment in a long-term maintenance program may follow.
Study description at National Institutes of Health
Inborn Errors of Metabolism Clinic
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:
Elizabeth McCracken, MS, CGC
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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