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

Jerry Vockley, MD, PhD

Status and phase: Invitation-only; Phase 1

Conditions: Combined D,L-2-hydroxyglutaric Aciduria

Treatments: Drug: Sodium phenylbutyrate

Study type: Interventional

Funder types: Other; Industry

Identifiers

NCT07125066

STUDY25060137

Details and patient eligibility

About

This is an individual patient research protocol to treat a patient diagnosed with Combined D,L-2-hydroxyglutaric aciduria (C-2HGA) with ACER-001.

Full 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.

Enrollment: 1 estimated patient

Sex: Male

Volunteers: No Healthy Volunteers

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.

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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1 participants in 1 patient group

sodium phenylbutyrate

Experimental group

Description:

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

Treatment:

Drug: Sodium phenylbutyrate