An Individual Patient, Open Label Study to Use ACER-001 to Treat Combined D,L-2 Hydroxyglutaric Aciduria (C-2HGA)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Sodium phenylbutyrate.
- Who it may be relevant to
- Registry conditions: Combined D,L-2-hydroxyglutaric Aciduria. Basic parameters: No limits · Male.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
An Individual Patient, Open Label Study to Use ACER-001 to Treat Combined D,L-2-hydroxyglutaric Aciduria (C-2HGA)
Overview
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.
Interventions
- Drug Sodium phenylbutyrate
open-label design with doses of sodium phenylbutyrate
Primary outcome measures
- Number of treatment related adverse events [Time frame: 2 years]
Secondary outcome measures (4)
- Change in the amount of urine D,L 2-Hydroxyglutaric acid in urine [Time frame: 2 years]
- Change in phenylacetylglutamine in urine [Time frame: 2 years]
- Change in the number of seizures reported by parents [Time frame: 2 years]
- Change in ventilator support [Time frame: 2 years]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Treatment
Study locations
United States · 1 center
- Children's Hospital of Pittsburgh of UPMC — Pittsburgh
Identifiers
NCT: NCT07125066 · STUDY25060137