Actively Recruiting

Phase 2
Age: 4Years +
All Genders
NCT06773026

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

Led by Jerry Vockley, MD, PhD · Updated on 2025-07-11

24

Participants Needed

1

Research Sites

104 weeks

Total Duration

On this page

Sponsors

J

Jerry Vockley, MD, PhD

Lead Sponsor

Z

Zevra Therapeutics

Collaborating Sponsor

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

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

Who Can Participate

Age: 4Years +
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Diagnosis of MCADD with molecular confirmation of at least one copy of the c.985A>G mutation
  • Age 4 years or older
  • Able to comply with study activities including wearing a continuous glucose monitor, IV catheter placement, and blood draws
  • Negative pregnancy test for females of childbearing age
  • Signed informed consent by the participant or parent/guardian
  • Agreement to use acceptable contraception if sexually active during the study
  • Willingness to maintain continuous glucose monitoring throughout the study
Not Eligible

You will not qualify if you...

  • Use of any investigational drug within 30 days before Day 1
  • Active infection or other intercurrent condition at screening
  • Any clinical or lab abnormality Grade 3 or higher by CTCAE v5.0 or severe liver enzyme elevation
  • Any condition that increases risk for the participant as judged by the investigator
  • Use of medications affecting renal clearance, protein catabolism, or ammonia levels within 48 hours before Day 1 and during the study
  • Renal insufficiency with eGFR less than 60 mL/min/1.73m2
  • Use of sodium benzoate within one week before Day 1
  • Known allergy to PAA or PBA
  • Breastfeeding or lactating females
  • Risk of hypokalemia or use of medications causing hypokalemia
  • Diagnosis of type 1 or type 2 diabetes or use of medications causing hypoglycemia
  • Positive urine drug screen for non-prescribed drugs
  • Use of antimetabolite drugs that interfere with glucose monitoring sensors

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, United States, 15224

Actively Recruiting

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Research Team

E

Elizabeth McCracken

CONTACT

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

NA

Model

SINGLE_GROUP

Primary Purpose

TREATMENT

Number of Arms

1

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