NCT06773026 Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Pediatric and Adults Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
| NCT ID | NCT06773026 |
| Status | Recruiting |
| Phase | Phase 2 |
| Sponsor | Jerry Vockley, MD, PhD |
| Condition | Medium-chain Acyl-CoA Dehydrogenase Deficiency |
| Study Type | INTERVENTIONAL |
| Enrollment | 24 participants |
| Start Date | 2025-06-30 |
| Primary Completion | 2027-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
In Phase 2, researchers evaluate early signs of effectiveness. You may be randomized to receive the active treatment or a comparator. Monitoring continues closely.
This trial targets 24 participants in total. It began in 2025-06-30 with a primary completion date of 2027-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
Eligibility Criteria
Inclusion Criteria: 1. A diagnosis of MCADD and molecular confirmation of at least one copy of the common c.985A\>G mutation. 2. ≥4 years of age 3. Able to perform and comply with study activities placement of a continuous glucose monitor, IV catheter, and all blood draws. 4. Negative pregnancy test for all female subjects of childbearing age. 5. Signed informed consent by the subject or parent/guardian of minors. 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. Willing and able to adhere to requirements for maintaining continuous glucose monitoring. Exclusion Criteria: 1. Use of any investigational drug within 30 days of Day 1. 2. Active infection (viral or bacterial) or any other intercurrent condition as reported by the subject or noted on physical exam at screening. 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. 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. 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. 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. Use of sodium benzoate within one week of Day 1. 8. Known hypersensitivity to PAA or PBA. 9. Breastfeeding or lactating females. 10. Subjects at risk of hypokalemia due to pre-existing diagnosis or on medications that can cause hypokalemia. 11. Subjects with type 1 or type 2 diabetes, or who take medications as part of their routine care that can cause hypoglycemia 12. A positive urine drug screen at screening for drugs without a prescription 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
Contact & Investigator
Gerard Vockley, MD, PhD
PRINCIPAL INVESTIGATOR
UPMC Children's Hospital of Pittsburgh
Frequently Asked Questions
Who can join the NCT06773026 clinical trial?
This trial is open to participants of all sexes, aged 4 Years or older, studying Medium-chain Acyl-CoA Dehydrogenase Deficiency. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
What phase is the NCT06773026 trial and what does that mean for participants?
Phase 2 trials evaluate whether the treatment shows signs of effectiveness while continuing to monitor safety. More participants are enrolled than in Phase 1 to help refine the treatment protocol.
Is NCT06773026 currently recruiting?
Yes, NCT06773026 is actively recruiting participants. Contact the research team at elizabeth.mccracken@chp.edu for enrollment information.
Where is the NCT06773026 trial being conducted?
This trial is being conducted at Pittsburgh, United States.
Who is sponsoring the NCT06773026 clinical trial?
NCT06773026 is sponsored by Jerry Vockley, MD, PhD. The principal investigator is Gerard Vockley, MD, PhD at UPMC Children's Hospital of Pittsburgh. The trial plans to enroll 24 participants.