Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation
Status:
Completed
Trial end date:
2016-02-01
Target enrollment:
Participant gender:
Summary
This is a medical research study to test a medication in adult patients with a disease called
medium-chain acyl-CoA dehydrogenase (MCAD) deficiency caused by at least one copy of the
985A>G mutation. The medication is glycerol phenylbutyrate, called Ravicti, which is
currently FDA approved for the treatment of urea cycle disorders. Previous research suggests
that Ravicti may also be effective in the treatment MCAD deficiency. This study will
investigate the safety and efficacy (how well it works) of Ravicti in patients with MCAD
deficiency caused by having at least one copy of the 985A>G mutation.