Medium-chain Acyl-CoA Dehydrogenase DeficiencyPhase 2NCT06069375
Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Patients With Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD)
A Phase 2 study testing Sodium phenylbutyrate in people with Medium-chain Acyl-CoA Dehydrogenase Deficiency, run by Jerry Vockley, MD, PhD at 1 site in United States.
Trial summary
This is a medical research study to test a medication in patients 10 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. Read more about this study
- Who is it for?
- Ages 10 years and older
- Conditions the study is for
- Medium-chain Acyl-CoA Dehydrogenase Deficiency
- What is being tested?
- Sodium phenylbutyrate
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 24 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Apr 2024to Dec 2028
- Phase
- Phase 2
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 10 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- A diagnosis of MCADD and molecular confirmation of at least one copy of the common c.985A>G mutation.
- ≥16 years of age for cohort 1 and ≥10-15 years of age for cohort 2.
- Able to perform and comply with study activities including overnight admission to the PCTRC, placement of an 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.
Who cannot join
- 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), aspartate aminotransferase (AST/SGOT), or gamma glutamyl transpeptidase (GGT) 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.
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- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
About this study
Official title: A Phase 2, Open-Label, Fixed Dose Study to Evaluate the Use of Sodium Phenylbutyrate (ACER-001) in the Treatment of Pediatric and Adult Patients With MCAD Deficiency Caused by the Common ACADM c.985 A>G (K304E) Mutation
This is a medical research study to test a medication in patients 10 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.
Read the detailed description
Participation in the study will require two overnight admissions and one outpatient visit at the Clinical and Translational Research Center at the UPMC Children's Hospital of Pittsburgh (also called the PCTRC). The total length of the study is 7 weeks.
Subjects will have blood work and an intravenous access line (IV) placed for several blood draws during the overnight visits. Subjects will begin fasting during the admission, which means they may consume only non-caloric fluids (water, unsweetened black coffee or tea, or sugar-free beverages). Bloodwork will be collected during the fast. Following the completion of the fast, the subject will eat a meal and will receive the study drug, sodium phenylbutyrate. The total time of fasting will be up to 24 hours for patients 16 years of age and older and up to 18 hours for patients 10-15 years of age.
Dosing for this study will be assigned to one of three doses: 3.0 g/m2/day in one daily dose, 3.0 g/m2/day divided into two daily doses 12 hours apart, and 4.0 g/m2/day divided into two daily doses 12 hours apart.
Subjects will return after 4 weeks to undergo the overnight admission and 18/24-hour fasting procedures outlined above. After the Week 5 admission they will no longer take the sodium phenylbutyrate.
Subjects will return after 2 weeks for an outpatient visit to have some additional blood work done and to make sure they are not experiencing any adverse effects.
All study procedures will be done at no cost to the subjects.
- Being tested
- Sodium phenylbutyrate
- Keywords
- Medium Chain Acyl-CoA Dehydrogenase Deficiency
- Medical subject headings
- Medium chain acyl CoA dehydrogenase deficiency
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Sodium phenylbutyrateDrug
Also called Olpruva
Open-label design with doses of sodium phenylbutyrate up to 4.0 g/m2/day
| Study group | Role | What they receive |
|---|---|---|
| 3.0 g/m2/day QD sodium phenylbutyrate | Experimental | Up to 8 subjects (4 - ages 10-15 years old and 4 - 16 years of age and older) will be randomized to take 3.0 g/m2/day in one daily dose Receives: Drug: Sodium phenylbutyrate |
| 3.0 g/m2/day BID sodium phenylbutyrate | Experimental | Up to 8 subjects (4 - ages 10-15 years old and 4 - 16 years of age and older) will be randomized to take 3.0 g/m2/day divided into two daily doses taken 12 hours apart Receives: Drug: Sodium phenylbutyrate |
| 4.0 g/m2/day BID sodium phenylbutyrate | Experimental | Up to 8 subjects (4 - ages 10-15 years old and 4 - 16 years of age and older) will be randomized to take 4.0 g/m2/day divided into two daily doses taken 12 hours apart Receives: Drug: Sodium phenylbutyrate |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of participants with treatment related adverse events as assessed by CTCAE v5.0
Measured: 7 weeks
Secondary outcomes (1)
Length of fast before hypoglycemia develops
Comparision of the length of time each subject can fast, comparing their baseline fast to the fast after they are on sodium phenylbutyrate for 4 weeks
Measured: 4 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted5 Oct 2023
- Study start1 Apr 2024
- Primary completionJun 2028 (estimated)
- Study completionDec 2028 (estimated)
Why it stopped: Study has been temporarily stopped until another study is completed. Data from the other study may inform changes to this study.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Medium-chain Acyl-CoA Dehydrogenase DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 2
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 24 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Jerry Vockley, MD, PhD
- Sponsor type
- University, hospital or other
- Collaborators
- Acer Therapeutics Inc.
- Responsible party
- Sponsor-investigator, Jerry Vockley, MD, PhD, University of Pittsburgh
- Investigators
- Gerard L Vockley, MD, PhD, Principal investigator, UPMC Children's Hospital of Pittsburgh
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06069375
- Sponsor's protocol ID
- STUDY23060034
- Status last verified
- Jul 2026
- First submitted
- 28 Sep 2023
- Last updated
- 6 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- Yes
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Phase 2, Open-Label, Fixed Dose Study to Evaluate the Use of Sodium Phenylbutyrate (ACER-001) in the Treatment of Pediatric and Adult Patients With MCAD Deficiency Caused by the Common ACADM c.985 A>G (K304E) Mutation
- ClinicalTrials.gov ID
- NCT06069375
- Acronym / sponsor ID
- STUDY23060034
- Keywords
- Medium Chain Acyl-CoA Dehydrogenase Deficiency
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- SuspendedReason stopped: Study has been temporarily stopped until another study is completed. Data from the other study may inform changes to this study.
- Enrolment
- 24 participants (estimated)
- Lead sponsor
- Jerry Vockley, MD, PhDUniversity, hospital or other
- Collaborators
- Acer Therapeutics Inc.
- Study start
- 1 Apr 2024 (actual)
- Primary completion
- Jun 2028 (estimated)
- Study completion
- Dec 2028 (estimated)
- First posted
- 5 Oct 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is a medical research study to test a medication in patients 10 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.
Detailed description
Participation in the study will require two overnight admissions and one outpatient visit at the Clinical and Translational Research Center at the UPMC Children's Hospital of Pittsburgh (also called the PCTRC). The total length of the study is 7 weeks.
Subjects will have blood work and an intravenous access line (IV) placed for several blood draws during the overnight visits. Subjects will begin fasting during the admission, which means they may consume only non-caloric fluids (water, unsweetened black coffee or tea, or sugar-free beverages). Bloodwork will be collected during the fast. Following the completion of the fast, the subject will eat a meal and will receive the study drug, sodium phenylbutyrate. The total time of fasting will be up to 24 hours for patients 16 years of age and older and up to 18 hours for patients 10-15 years of age.
Dosing for this study will be assigned to one of three doses: 3.0 g/m2/day in one daily dose, 3.0 g/m2/day divided into two daily doses 12 hours apart, and 4.0 g/m2/day divided into two daily doses 12 hours apart.
Subjects will return after 4 weeks to undergo the overnight admission and 18/24-hour fasting procedures outlined above. After the Week 5 admission they will no longer take the sodium phenylbutyrate.
Subjects will return after 2 weeks for an outpatient visit to have some additional blood work done and to make sure they are not experiencing any adverse effects.
All study procedures will be done at no cost to the subjects.
Study design
- Primary purpose
- Treatment
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 3.0 g/m2/day QD sodium phenylbutyrate | Experimental | Drug: Sodium phenylbutyrateUp to 8 subjects (4 - ages 10-15 years old and 4 - 16 years of age and older) will be randomized to take 3.0 g/m2/day in one daily dose |
| 3.0 g/m2/day BID sodium phenylbutyrate | Experimental | Drug: Sodium phenylbutyrateUp to 8 subjects (4 - ages 10-15 years old and 4 - 16 years of age and older) will be randomized to take 3.0 g/m2/day divided into two daily doses taken 12 hours apart |
| 4.0 g/m2/day BID sodium phenylbutyrate | Experimental | Drug: Sodium phenylbutyrateUp to 8 subjects (4 - ages 10-15 years old and 4 - 16 years of age and older) will be randomized to take 4.0 g/m2/day divided into two daily doses taken 12 hours apart |
Who may qualify
- Ages
- 10 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (6 listed)
- A diagnosis of MCADD and molecular confirmation of at least one copy of the common c.985A>G mutation.
- ≥16 years of age for cohort 1 and ≥10-15 years of age for cohort 2.
- Able to perform and comply with study activities including overnight admission to the PCTRC, placement of an 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.
Key exclusion criteria (11 listed)
- 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), aspartate aminotransferase (AST/SGOT), or gamma glutamyl transpeptidase (GGT) 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Sodium phenylbutyrateAlso: OlpruvaOpen-label design with doses of sodium phenylbutyrate up to 4.0 g/m2/day | Drug | 3.0 g/m2/day BID sodium phenylbutyrate, 3.0 g/m2/day QD sodium phenylbutyrate, 4.0 g/m2/day BID sodium phenylbutyrate |
Primary outcome
Number of participants with treatment related adverse events as assessed by CTCAE v5.0
Time frame: 7 weeks
1 secondary outcome
Length of fast before hypoglycemia develops
Time frame: 4 weeks
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Jul 2026.
- Individual participant dataSharing planned: No
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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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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Gerard L Vockley, MD, PhD principal investigator
UPMC Children's Hospital of Pittsburgh
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 2 study testing Sodium phenylbutyrate in people with Medium-chain Acyl-CoA Dehydrogenase Deficiency, run by Jerry Vockley, MD, PhD at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 6 inclusion and 11 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: paused, as of the sponsor's last update on 6 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 2 studies give the treatment to a larger group to see whether it has the intended effect and to keep checking safety.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of participants with treatment related adverse events as assessed by CTCAE v5.0 (time frame: 7 weeks). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Jul 2026.