NCT06773026

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

A Phase 2, Open-label, Fixed-dose Study to Assess the Efficacy of Sodium Phenylbutyrate (ACER-001) in Treating Pediatric and Adult Patients With Medium Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency Resulting From the Prevalent ACADM c.985 A>G (K304E) Mutation

• Status: Recruiting
• Phase: Phase 2
• Study type: Interventional
• Enrollment: 24 (estimated)
• Sponsor: Jerry Vockley, MD, PhD · Academic / Other
• Sex: All
• Age: 4 Years
• Healthy volunteers: Not accepted

Summary

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.

Detailed description

Participation in the study will require three outpatient visits 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 participation is approximately 5 weeks. Participants will come in for a screening visit (Visit 1) to where they will undergo some lab work testing to confirm they are eligible for the study. If it's determined that they are eligible, they will undergo training on the use of a continuous glucose monitor (CGM). They will be sent home and asked to wear the CGM for the next 10 days. This 10-day period is considered the run-in period. Following the run-in period, participants will return to the site (Visit 2) in a fasting state. They will have an intravenous access line (IV) placed for several blood draws during the visit. Fasting labs will be drawn, then the participant will be provided with a meal and then will then be dosed with ACER-001. Following the dose of ACER-001, pharmacokinetics (PK) samples will be collected over the next 8 hours. Once the final PK sample has been collected, participant will be sent home with continuous glucose monitoring and will be asked to log their ACER-001 doses as well as overnight fasting times. All participants will be dosed at 4.0 g/m2/day divided two times a day. Participants will be asked to return approximately 2 weeks later for Visit 3 to complete the same procedures outlined for Visit 2. Study staff will contact the participant by phone approximately 1 week after Visit 3 to follow up on any adverse events. All study procedures will be done at no cost to the participants..

Conditions

• Medium-chain Acyl-CoA Dehydrogenase Deficiency

Interventions

Type	Name	Description
DRUG	Sodium phenylbutyrate	Open-label design with doses of sodium phenylbutyrate at 4.0 g/m2/day

Timeline

• Start date: 2025-06-30
• Primary completion: 2027-01-01
• Completion: 2027-07-01
• First posted: 2025-01-14
• Last updated: 2025-07-11

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study