RECRUITING

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

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Conditions

Medium-chain Acyl-CoA Dehydrogenase Deficiency

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Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

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

Quick Facts

Study Start:2025-02
Study Completion:2026-07
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT06773026

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:4 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. 1. A diagnosis of MCADD and molecular confirmation of at least one copy of the common c.985A\>G mutation.
  2. 2. ≥4 years of age
  3. 3. Able to perform and comply with study activities placement of a continuous glucose monitor, IV catheter, and all blood draws.
  4. 4. Negative pregnancy test for all female subjects of childbearing age.
  5. 5. Signed informed consent by the subject or parent/guardian of minors.
  6. 6. 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.
  7. 7. Willing and able to adhere to requirements for maintaining continuous glucose monitoring.
  1. 1. Use of any investigational drug within 30 days of Day 1.
  2. 2. Active infection (viral or bacterial) or any other intercurrent condition as reported by the subject or noted on physical exam at screening.
  3. 3. 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.
  4. 4. 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.
  5. 5. 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.
  6. 6. 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.
  7. 7. Use of sodium benzoate within one week of Day 1.
  8. 8. Known hypersensitivity to PAA or PBA.
  9. 9. Breastfeeding or lactating females.
  10. 10. Subjects at risk of hypokalemia due to pre-existing diagnosis or on medications that can cause hypokalemia.
  11. 11. Subjects with type 1 or type 2 diabetes, or who take medications as part of their routine care that can cause hypoglycemia
  12. 12. A positive urine drug screen at screening for drugs without a prescription
  13. 13. 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

Contacts and Locations

Study Contact

Elizabeth McCracken
CONTACT
412-692-5662
elizabeth.mccracken@chp.edu

Principal Investigator

Gerard Vockley, MD, PhD
PRINCIPAL_INVESTIGATOR
UPMC Children's Hospital of Pittsburgh

Study Locations (Sites)

UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
United States

Collaborators and Investigators

Sponsor: Jerry Vockley, MD, PhD

  • Gerard Vockley, MD, PhD, PRINCIPAL_INVESTIGATOR, UPMC Children's Hospital of Pittsburgh

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2025-02
Study Completion Date2026-07

Study Record Updates

Study Start Date2025-02
Study Completion Date2026-07

Terms related to this study

Keywords Provided by Researchers

  • Medium-chain Acyl-CoA Dehydrogenase Deficiency

Additional Relevant MeSH Terms

  • Medium-chain Acyl-CoA Dehydrogenase Deficiency