An Individual Patient, Open Label Study to Use ACER-001 t... | NCT07125066

Studies
An Individual Patient, Open Label Study to Use ACER-001 to Treat Combined D,L-2 Hydroxyglutaric Aciduria (C-2HGA)

NCT07125066

Sponsor

Jerry Vockley, MD, PhD

Status

Enrolling by invitation

Last Update Posted

Jun 8, 2026Actual

Enrollment

1Estimated

Phase

Phase 1

Conditions

Combined D,L-2-hydroxyglutaric Aciduria

Interventions

Sodium phenylbutyrate

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jun 2026

Overall Recruitment Status or Expanded Access Status

Enrolling by invitation

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Not provided

Start Date

Jul 30, 2025Actual

Primary Completion Date

Jul 2027Estimated

Completion Date

Dec 2027Estimated

First Submitted Date

Jul 30, 2025

First Submission Date that Met QC Criteria

Aug 7, 2025

First Posted Date

Aug 15, 2025Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 4, 2026

Last Update Posted Date

Jun 8, 2026Actual

Name	Class
Zevra Therapeutics	INDUSTRY

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Yes

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief 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.

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.

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Phase 1

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

1Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
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	Drug: Sodium phenylbutyrate

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Sodium phenylbutyrate	Drug	open-label design with doses of sodium phenylbutyrate	sodium phenylbutyrate

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Number of treatment related adverse events		2 years

Secondary Outcomes

Measure	Description	Time Frame
Change in the amount of urine D,L 2-Hydroxyglutaric acid in urine		2 years
Change in phenylacetylglutamine in urine		2 years
Change in the number of seizures reported by parents

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

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

Exclusion Criteria:

Refusal or withdrawal of consent.
Drug Intolerance.

Accepts Healthy Volunteers

Sex

Male

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Gerard Vockley, MD, PhD	UPMC Children's Hospital of Pittsburgh	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Children's Hospital of Pittsburgh of UPMC		Pittsburgh	Pennsylvania	15224	United States

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
C075773	4-phenylbutyric acid

Ancestor Terms

Not provided

Browse Leaves

Not provided

Browse Branches

Not provided