Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation

• Status: Completed
• Trial end date: 2016-02-01
• Target enrollment: 0
• Participant gender: All

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.

• Phase: Phase 1
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: University of Pittsburgh
• Collaborator: Horizon Pharma Ireland, Ltd., Dublin Ireland
• Treatments: 4-phenylbutyric acid; Glycerol

Criteria

Inclusion Criteria:

• confirmation of a diagnosis of MCAD deficiency

• at least one copy of 985A>G MCAD mutation

• ability to follow protocol

Exclusion Criteria:

• positive pregnancy test

• currently breastfeeding

• currently taking any medication for which there is a potential drug interaction with Ravicti, includes corticosteroids, valproic acid, haloperidol, and probenecid

• liver or kidney insufficiency