Medium-chain Acyl-CoA Dehydrogenase DeficiencyPhase 2NCT06773026
Study of Sodium Phenylbutyrate (ACER-001) for the Treatment of Pediatric and Adults 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 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. Read more about this study
- Who is it for?
- Ages 4 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
- 30 Jun 2025to Jul 2028
- Phase
- Phase 2
- Are there results?
- Not yet: the study is under way
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 4 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.
- ≥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.
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), 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.
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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
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, 15224
Elizabeth McCracken, MS, CGC, 412-692-5662, elizabeth.mccracken@chp.edu
Gerard Vockley, MD, PhD
About this study
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
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.
Read the detailed description
Participation in the study will require three outpatient visits 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 participation is approximately 5 weeks.
Participants will come in for a screening visit (Visit 1) to where they will undergo some lab work testing to confirm they are eligible for the study. If it's determined that they are eligible, they will undergo training on the use of a continuous glucose monitor (CGM). They will be sent home and asked to wear the CGM for the next 10 days. This 10-day period is considered the run-in period.
Following the run-in period, participants will return to the site (Visit 2) in a fasting state. They will have an intravenous access line (IV) placed for several blood draws during the visit. Fasting labs will be drawn, then the participant will be provided with a meal and then will then be dosed with ACER-001. Following the dose of ACER-001, pharmacokinetics (PK) samples will be collected over the next 8 hours. Once the final PK sample has been collected, participant will be sent home with continuous glucose monitoring and will be asked to log their ACER-001 doses as well as overnight fasting times.
All participants will be dosed at 4.0 g/m2/day divided two times a day.
Participants will be asked to return approximately 2 weeks later for Visit 3 to complete the same procedures outlined for Visit 2.
Study staff will contact the participant by phone approximately 1 week after Visit 3 to follow up on any adverse events.
All study procedures will be done at no cost to the participants..
- 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 at 4.0 g/m2/day
| Study group | Role | What they receive |
|---|---|---|
| 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 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: 5 weeks
Secondary outcomes (3)
Length of time before glucose falls below 60 mg/dL
Comparison of the length of time each participant's glucose level stays above 60 mg/dL, comparing their values from the run-in period to the results obtained between Visits 2 and 3
Measured: 5 weeks
Length of time before glucose falls below 70 mg/dL
Comparison of the length of time each participant's glucose level stays above 70 mg/dL, comparing their values from the run-in period to the results obtained between Visits 2 and 3
Measured: 5 weeks
Length of time before glucose falls below 80 mg/dL
Comparison of the length of time each participant's glucose level stays above 80 mg/dL, comparing their values from the run-in period to the results obtained between Visits 2 and 3
Measured: 5 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jan 2025
- Study start30 Jun 2025
- Primary completionJan 2028 (estimated)
- Study completionJul 2028 (estimated)
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
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 24 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Jerry Vockley, MD, PhD
- Sponsor type
- University, hospital or other
- Collaborators
- Zevra Therapeutics
- Responsible party
- Sponsor-investigator, Jerry Vockley, MD, PhD, University of Pittsburgh
- Investigators
- Gerard Vockley, MD, PhD, Principal investigator, UPMC Children's Hospital of Pittsburgh
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06773026
- Sponsor's protocol ID
- STUDY24100064
- Status last verified
- Oct 2026
- First submitted
- 9 Jan 2025
- Last updated
- 21 Oct 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 21 Oct 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 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
- ClinicalTrials.gov ID
- NCT06773026
- Acronym / sponsor ID
- STUDY24100064
- Keywords
- Medium-chain Acyl-CoA Dehydrogenase Deficiency
- Phase
- Phase 2
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 24 participants (estimated)
- Lead sponsor
- Jerry Vockley, MD, PhDUniversity, hospital or other
- Collaborators
- Zevra Therapeutics
- Study start
- 30 Jun 2025 (actual)
- Primary completion
- Jan 2028 (estimated)
- Study completion
- Jul 2028 (estimated)
- First posted
- 14 Jan 2025 (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 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.
Detailed description
Participation in the study will require three outpatient visits 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 participation is approximately 5 weeks.
Participants will come in for a screening visit (Visit 1) to where they will undergo some lab work testing to confirm they are eligible for the study. If it's determined that they are eligible, they will undergo training on the use of a continuous glucose monitor (CGM). They will be sent home and asked to wear the CGM for the next 10 days. This 10-day period is considered the run-in period.
Following the run-in period, participants will return to the site (Visit 2) in a fasting state. They will have an intravenous access line (IV) placed for several blood draws during the visit. Fasting labs will be drawn, then the participant will be provided with a meal and then will then be dosed with ACER-001. Following the dose of ACER-001, pharmacokinetics (PK) samples will be collected over the next 8 hours. Once the final PK sample has been collected, participant will be sent home with continuous glucose monitoring and will be asked to log their ACER-001 doses as well as overnight fasting times.
All participants will be dosed at 4.0 g/m2/day divided two times a day.
Participants will be asked to return approximately 2 weeks later for Visit 3 to complete the same procedures outlined for Visit 2.
Study staff will contact the participant by phone approximately 1 week after Visit 3 to follow up on any adverse events.
All study procedures will be done at no cost to the participants..
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 4.0 g/m2/day BID sodium phenylbutyrate | Experimental | Drug: Sodium phenylbutyrateUp 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 |
Who may qualify
- Ages
- 4 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (7 listed)
- 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.
Key exclusion criteria (13 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), 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.
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 at 4.0 g/m2/day | Drug | 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: 5 weeks
3 secondary outcomes
Length of time before glucose falls below 60 mg/dL
Time frame: 5 weeks
Length of time before glucose falls below 70 mg/dL
Time frame: 5 weeks
Length of time before glucose falls below 80 mg/dL
Time frame: 5 weeks
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 21 Oct 2026.
- Individual participant dataSharing planned: No
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Recruiting
Metabolic Effects of Medium-Chain Fatty Acids in Patients With Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Healthy Individuals
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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.
Gerard 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 7 inclusion and 13 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: looking for participants now, as of the sponsor's last update on 21 Oct 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?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Elizabeth McCracken (412-692-5662, elizabeth.mccracken@chp.edu), or a site near the patient. 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: 5 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 21 Oct 2026.