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Enrolling by Invitation

NCT Number: NCT07125066

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.

Enrolling by Invitation

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Key information

Conditions

Combined D,L-2-hydroxyglutaric Aciduria

Sex eligibility

Male

Study type

Interventional

Phase

Phase 1

Primary location

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15224, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Sodium Phenylbutyrate

Drug

open-label design with doses of sodium phenylbutyrate

Other names: Olpruva

Primary outcomes

  1. Number of treatment related adverse events

    Time frame: 2 years

Secondary outcomes

  1. Change in the amount of urine D,L 2-Hydroxyglutaric acid in urine

    Time frame: 2 years

  2. Change in phenylacetylglutamine in urine

    Time frame: 2 years

  3. Change in the number of seizures reported by parents

    Time frame: 2 years

  4. Change in ventilator support

    Time frame: 2 years

Sponsors and collaborators

Lead sponsor

Jerry Vockley, MD, PhD

Other

Collaborators

  • Zevra Therapeutics

Registry information

Official study title

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

Important dates

Study start
2025
Primary completion
2027
Study completion
2027
First posted
Aug 15, 2025
Registry last updated
Jun 8, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.