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

Conditions

• Medium-chain Acyl-CoA Dehydrogenase Deficiency

Eligibility Criteria

Sex

ALL

Age

4 Years - N/A

Healthy Volunteers

Not accepted

Interventions

• Sodium phenylbutyrate — DRUG
  Open-label design with doses of sodium phenylbutyrate at 4.0 g/m2/day

Study Details

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.

Key Dates

Start date

Jun 30, 2025

Status verified

Jun 2026

Primary completion

Jan 31, 2027

Completion

Jul 31, 2027

Study Design

Enrollment

24 participants (estimated)

Allocation

NA

Intervention model

SINGLE_GROUP

Primary purpose

TREATMENT

Arms

• Experimental: 4.0 g/m2/day BID sodium phenylbutyrate
  Up to 24 subjects (12: ages 4-9 years old; 12:10 years of age and older) will be randomized to take 4.0 g/m2/day divided into two daily doses

Primary Outcome Measure

Number of participants with treatment related adverse events as assessed by CTCAE v5.0 [ Time Frame: 5 weeks ]

Central Contacts

• Elizabeth McCracken
  412-692-5662
  [email protected]

Locations (1)

Find similar trials in Pittsburgh, PA

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