10-week study looking at the medication Triheptanoin and its effects on fasting and reduction in blood glucose levels.

Children’s Hospital of Pittsburgh of UPMC Division of Genetic and Genomic Medicine is looking for patients 16 years of age or older with a diagnosis of Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency to participate in a 10-week study looking at the medication Triheptanoin and its effects on fasting and reduction in blood glucose levels.  Participants must have a confirmed diagnosis of MCAD deficiency based on DNA sequencing and be willing to come to Pittsburgh three times during this period for an overnight admission to monitor fasting glucose levels and other metabolites for up to 24 hours followed by escalated dosing of study medication. Participants will be asked to take the study medication 3-4 times daily as tolerated. Travel and a participant stipend will be covered by the study site.  If you are interested in learning more about this trial, please contact Elizabeth McCracken at 412-692-5662.