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

NCT06773026 | Recruiting Phase 2 FDA Drug

• 1 other identifier: STUDY24100064
• Study Type: interventional
• Target: 24
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Medium-chain Acyl-CoA Dehydrogenase Deficiency

Keywords

Medium-chain Acyl-CoA Dehydrogenase Deficiency

Outcome Measures

Primary Outcomes (1)

• Number of participants with treatment related adverse events as assessed by CTCAE v5.0

  5 weeks

Secondary Outcomes (3)

• Length of time before glucose falls below 60 mg/dL

  5 weeks

• Length of time before glucose falls below 70 mg/dL

  5 weeks

• Length of time before glucose falls below 80 mg/dL

  5 weeks

Study Arms (1)

4.0 g/m2/day BID sodium phenylbutyrate

EXPERIMENTAL

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

Drug: Sodium phenylbutyrate

Interventions

Sodium phenylbutyrate DRUG

Open-label design with doses of sodium phenylbutyrate at 4.0 g/m2/day

Also known as: Olpruva

4.0 g/m2/day BID sodium phenylbutyrate

Eligibility Criteria

• Age: 4 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• A diagnosis of MCADD and molecular confirmation of at least one copy of the common c.985A\>G mutation.
• ≥4 years of age
• Able to perform and comply with study activities placement of a continuous glucose monitor, IV catheter, and all blood draws.
• Negative pregnancy test for all female subjects of childbearing age.
• Signed informed consent by the subject or parent/guardian of minors.
• All females of childbearing age and all sexually active males must agree to use an acceptable method of contraception throughout the study. Appropriate contraceptive methods include hormonal contraceptives (oral, injected, implanted, or transdermal), tubal ligation, intrauterine device, hysterectomy, vasectomy, or double barrier methods. Abstinence is an acceptable form of birth control, though appropriate contraception must be used if the subject becomes sexually active.
• Willing and able to adhere to requirements for maintaining continuous glucose monitoring.

You may not qualify if:

• Use of any investigational drug within 30 days of Day 1.
• Active infection (viral or bacterial) or any other intercurrent condition as reported by the subject or noted on physical exam at screening.
• Any clinical or laboratory abnormality of Grade 3 or greater severity according to the CTCAE v5.0, or Grade 3 elevations in liver enzymes, defined as levels 5-20 times ULN in alanine aminotransferase (ALT/SGPT), or aspartate aminotransferase (AST/SGOT) in a clinically stable subject.
• Any clinical or laboratory abnormality or medical condition that, at the discretion of the investigator, may put the subject at increased risk by participating in this study.
• Use of any medication known to significantly affect renal clearance (e.g., probenecid) or to increase protein catabolism (e.g., corticosteroids), or other medication known to increase ammonia levels (e.g., valproic acid or haloperidol), within the 48 hours prior to Day 1 and throughout the study.
• Subjects with renal insufficiency will be excluded from the study. Cutoff eGFR \<60 mL/min/1.73m2 (GFR categories G3a-G5) will be used as measure of renal insufficiency.
• Use of sodium benzoate within one week of Day 1.
• Known hypersensitivity to PAA or PBA.
• Breastfeeding or lactating females.
• Subjects at risk of hypokalemia due to pre-existing diagnosis or on medications that can cause hypokalemia.
• Subjects with type 1 or type 2 diabetes, or who take medications as part of their routine care that can cause hypoglycemia
• A positive urine drug screen at screening for drugs without a prescription
• Subjects who are taking medications in the antimetabolite drug class (e.g., hydroxyurea, 5-fluorouracil (5-FU), methotrexate) will be excluded; these medications can interfere with the DEXCOM sensor and cause inaccurate glucose readings

Sponsors & Collaborators

• Jerry Vockley, MD, PhD: lead
• Zevra Therapeutics: collaborator

Study Sites (1)

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

RECRUITING

MeSH Terms

Conditions

Medium chain acyl CoA dehydrogenase deficiency

Interventions

4-phenylbutyric acid

Study Officials

• Gerard Vockley, MD, PhD

  UPMC Children's Hospital of Pittsburgh

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Elizabeth McCracken

CONTACT

412-692-5662; elizabeth.mccracken@chp.edu

Study Design

• Study Type: interventional
• Phase: phase 2
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Chief, Division of Genetic and Genomic Medicine

Study Record Dates

• First Submitted: January 9, 2025
• First Posted: January 14, 2025
• Study Start: June 30, 2025
• Primary Completion (Estimated): January 1, 2027
• Study Completion (Estimated): July 1, 2027
• Last Updated: July 11, 2025

Record last verified: 2025-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)