NCT07125066

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.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
1

participants targeted

Target at below P25 for phase_1

Timeline
19mo left

Started Jul 2025

Typical duration for phase_1

Geographic Reach
1 country

1 active site

Status
enrolling by invitation

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Progress33%
Jul 2025Dec 2027

First Submitted

Initial submission to the registry

July 30, 2025

Completed
Same day until next milestone

Study Start

First participant enrolled

July 30, 2025

Completed
16 days until next milestone

First Posted

Study publicly available on registry

August 15, 2025

Completed
1.9 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2027

Expected
5 months until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2027

Last Updated

August 15, 2025

Status Verified

July 1, 2025

Enrollment Period

1.9 years

First QC Date

July 30, 2025

Last Update Submit

August 7, 2025

Conditions

Combined D,L-2-hydroxyglutaric Aciduria

Keywords

Combined D,L-2-hydroxyglutaric aciduria

Outcome Measures

Primary Outcomes (1)

  • Number of treatment related adverse events

    2 years

Secondary Outcomes (4)

  • 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

    2 years

  • Change in ventilator support

    2 years

Study Arms (1)

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

Sodium phenylbutyrateDRUG

open-label design with doses of sodium phenylbutyrate

Also known as: Olpruva
sodium phenylbutyrate

Eligibility Criteria

Sexmale
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

  • 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

You may not qualify if:

  • Refusal or withdrawal of consent.
  • Drug Intolerance.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15224, United States

Location

MeSH Terms

Interventions

4-phenylbutyric acid

Study Officials

  • Gerard Vockley, MD, PhD

    UPMC Children's Hospital of Pittsburgh

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
interventional
Phase
phase 1
Allocation
NA
Masking
NONE
Purpose
TREATMENT
Intervention Model
SINGLE GROUP
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Chief, Division of Genetic and Genomic Medicine

Study Record Dates

First Submitted

July 30, 2025

First Posted

August 15, 2025

Study Start

July 30, 2025

Primary Completion (Estimated)

July 1, 2027

Study Completion (Estimated)

December 1, 2027

Last Updated

August 15, 2025

Record last verified: 2025-07

Data Sharing

IPD Sharing
Will not share

Locations

US(1)