NCT07125066

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

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

• Status: Enrolling By Invitation
• Phase: Phase 1
• Study type: Interventional
• Enrollment: 1 (estimated)
• Sponsor: Jerry Vockley, MD, PhD · Academic / Other
• Sex: Male
• Age: —
• Healthy volunteers: Not accepted

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.

Conditions

• Combined D,L-2-hydroxyglutaric Aciduria

Interventions

Type	Name	Description
DRUG	Sodium phenylbutyrate	open-label design with doses of sodium phenylbutyrate

Timeline

• Start date: 2025-07-30
• Primary completion: 2027-07-01
• Completion: 2027-12-01
• First posted: 2025-08-15
• Last updated: 2025-08-15

Locations

1 site across 1 country: United States

Regulatory

• FDA-regulated drug study