Status: Recruiting
Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Pediatric and Adults Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
This is a medical research study to test a medication in patients 4 years of age and older with a disease called medium-chain acyl-CoA dehydrogenase deficiency (MCADD) caused by the common ACADM c.985 A\>G (K304E) mutation. The medication is sodium phenylbutyrate (ACER-001), which is currently FDA approved for the treatment of Urea Cyle Disorders. Previous research suggests that sodium phenylbutyrate may also be effective in the treatment MCADD. This study will investigate the safety and efficacy (how well it works) of sodium phenylbutyrate in patients with MCADD.
Participants needed: 24
Trial details
Phase: Phase 2Age: 4+Biological sex: AllType: InterventionalSponsor: Jerry Vockley, MD, PhDUpdated: Jun 8, 2026Locations: 1
Eligibility criteria
A diagnosis of MCADD and molecular confirmation of at least one copy of the comm... [+6]
Use of any investigational drug within 30 days of Day 1. [+12]