Phenylbutyrate Therapy for Maple Syrup Urine Disease
Status:
Completed
Trial end date:
2017-12-01
Target enrollment:
Participant gender:
Summary
The investigators have learned in past research that the drug phenylbutyrate can decrease the
amounts of branched chain amino acids and their byproducts in the bloodstreams of healthy
volunteer patients and also patients with certain disorders of protein breakdown including
maple syrup urine disease. Through this study, the investigators will try to find out how
well phenylbutyrate (NaPBA), also known by name brand "Buphenyl-TM", decreases BCAA and
branched chain keto chain acids in the blood of patients with MSUD. The investigators hope is
that through this research the investigators will be better able to treat these patients.
Subjects with MSUD will take phenylbutyrate (NaPBA) in powder form for a two-week treatment
period and powder placebo, a substance with no effect on the body, for a two-week treatment
period. They will be given the same amount of powder and undergo the same laboratory testing
during both of the two-week treatment periods. The results will be compared once the study is
over.