Combined D,L-2-hydroxyglutaric AciduriaPhase 1NCT07125066
An Individual Patient, Open Label Study to Use ACER-001 to Treat Combined D,L-2 Hydroxyglutaric Aciduria (C-2HGA)
A Phase 1 study testing Sodium phenylbutyrate in people with Combined D,L-2-hydroxyglutaric Aciduria, run by Jerry Vockley, MD, PhD at 1 site in United States.
Trial summary
This is an individual patient research protocol to treat a patient diagnosed with Combined D,L-2-hydroxyglutaric aciduria (C-2HGA) with ACER-001. Read more about this study
- Who is it for?
- Any age, men only
- Conditions the study is for
- Combined D,L-2-hydroxyglutaric Aciduria
- What is being tested?
- Sodium phenylbutyrate
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 1 participants
- Where
- 1 siteUnited States
- Study dates
- 30 Jul 2025to Dec 2027
- Phase
- Phase 1
- 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 Any age
- Men only
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- Single patient with Combined D,L-2-hydroxyglutaric aciduria
- Parental permission must be given at the start of the protocol.
- Parents willing to adhere to the protocol
Who cannot join
- Refusal or withdrawal of consent.
- Drug Intolerance.
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
Children's Hospital of Pittsburgh of UPMC
Pittsburgh, Pennsylvania, 15224
About this study
Official title: An Individual Patient, Open Label Study to Use ACER-001 to Treat Combined D,L-2-hydroxyglutaric Aciduria (C-2HGA)
This is an individual patient research protocol to treat a patient diagnosed with Combined D,L-2-hydroxyglutaric aciduria (C-2HGA) with ACER-001.
Read the detailed description
Patient will continue to be seen during routine outpatient clinic visits every 6 months. At those visits the following will be collected: routine metabolic laboratory tests (including a complete metabolic profile, complete blood count, blood phenylacetylglutamine level, and urine organic acids), physical examinations, and an update of clinical history, especially regarding seizures and respiratory status.
Once consent is signed, the patient will continue to take ACER-001 as prescribed. The ACER-001 will be provided to the patient at no cost.
- Conditions
- Combined D,L-2-hydroxyglutaric Aciduria
- Being tested
- Sodium phenylbutyrate
- Keywords
- Combined D,L-2-hydroxyglutaric aciduria
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
| Study group | Role | What they receive |
|---|---|---|
| sodium phenylbutyrate | Experimental | a single patient will take sodium phenylbutyrate (ACER-001) current at a dose of 12 g/day; dose will be modified if the patient gains more than 5 kg of weight Receives: Drug: Sodium phenylbutyrate |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of treatment related adverse events
Measured: 2 years
Secondary outcomes (4)
Change in the amount of urine D,L 2-Hydroxyglutaric acid in urine
Measured: 2 years
Change in phenylacetylglutamine in urine
Measured: 2 years
Change in the number of seizures reported by parents
Measured: 2 years
Change in ventilator support
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Aug 2025
- Study start30 Jul 2025
- Primary completionJul 2027 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Combined D,L-2-hydroxyglutaric AciduriaStudies 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 1
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 1 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
- NCT07125066
- Sponsor's protocol ID
- STUDY25060137
- Status last verified
- Jun 2026
- First submitted
- 30 Jul 2025
- Last updated
- 8 Jun 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 8 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Individual Patient, Open Label Study to Use ACER-001 to Treat Combined D,L-2-hydroxyglutaric Aciduria (C-2HGA)
- ClinicalTrials.gov ID
- NCT07125066
- Acronym / sponsor ID
- STUDY25060137
- Conditions
- Combined D,L-2-hydroxyglutaric Aciduria
- Keywords
- Combined D,L-2-hydroxyglutaric aciduria
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Enrolling by invitation
- Enrolment
- 1 participants (estimated)
- Lead sponsor
- Jerry Vockley, MD, PhDUniversity, hospital or other
- Collaborators
- Zevra Therapeutics
- Study start
- 30 Jul 2025 (actual)
- Primary completion
- Jul 2027 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 15 Aug 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 an individual patient research protocol to treat a patient diagnosed with Combined D,L-2-hydroxyglutaric aciduria (C-2HGA) with ACER-001.
Detailed description
Patient will continue to be seen during routine outpatient clinic visits every 6 months. At those visits the following will be collected: routine metabolic laboratory tests (including a complete metabolic profile, complete blood count, blood phenylacetylglutamine level, and urine organic acids), physical examinations, and an update of clinical history, especially regarding seizures and respiratory status.
Once consent is signed, the patient will continue to take ACER-001 as prescribed. The ACER-001 will be provided to the patient at no cost.
Study design
- Primary purpose
- Treatment
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| sodium phenylbutyrate | Experimental | Drug: Sodium phenylbutyratea single patient will take sodium phenylbutyrate (ACER-001) current at a dose of 12 g/day; dose will be modified if the patient gains more than 5 kg of weight |
Who may qualify
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (3 listed)
- Single patient with Combined D,L-2-hydroxyglutaric aciduria
- Parental permission must be given at the start of the protocol.
- Parents willing to adhere to the protocol
Key exclusion criteria (2 listed)
- Refusal or withdrawal of consent.
- Drug Intolerance.
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 | Drug | sodium phenylbutyrate |
Primary outcome
Number of treatment related adverse events
Time frame: 2 years
4 secondary outcomes
Change in the amount of urine D,L 2-Hydroxyglutaric acid in urine
Time frame: 2 years
Change in phenylacetylglutamine in urine
Time frame: 2 years
Change in the number of seizures reported by parents
Time frame: 2 years
Change in ventilator support
Time frame: 2 years
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 8 Jun 2026.
- Individual participant dataSharing planned: No
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 1 study testing Sodium phenylbutyrate in people with Combined D,L-2-hydroxyglutaric Aciduria, 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 3 inclusion and 2 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: enrolling by invitation, as of the sponsor's last update on 8 Jun 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 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
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?
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 treatment related adverse events (time frame: 2 years). 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 8 Jun 2026.