Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)

Participation in the study will require two overnight admissions and one outpatient visit at the Clinical and Translational Research Center at the UPMC Children's Hospital of Pittsburgh (also called the PCTRC). The total length of the study is 7 weeks.

Subjects will have blood work and an intravenous access line (IV) placed for several blood draws during the overnight visits. Subjects will begin fasting during the admission, which means they may consume only non-caloric fluids (water, unsweetened black coffee or tea, or sugar-free beverages). Bloodwork will be collected during the fast. Following the completion of the fast, the subject will eat a meal and will receive the study drug, sodium phenylbutyrate. The total time of fasting will be up to 24 hours for patients 16 years of age and older and up to 18 hours for patients 10-15 years of age.

Dosing for this study will be assigned to one of three doses: 3.0 g/m2/day in one daily dose, 3.0 g/m2/day divided into two daily doses 12 hours apart, and 4.0 g/m2/day divided into two daily doses 12 hours apart.

Subjects will return after 4 weeks to undergo the overnight admission and 18/24-hour fasting procedures outlined above. After the Week 5 admission they will no longer take the sodium phenylbutyrate.

Subjects will return after 2 weeks for an outpatient visit to have some additional blood work done and to make sure they are not experiencing any adverse effects.

All study procedures will be done at no cost to the subjects.