Jerry Vockley, MD, PhD
This is an individual patient research protocol to treat a patient diagnosed with Combined D,L-2-hydroxyglutaric aciduria (C-2HGA) with ACER-001.
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.
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.
open-label design with doses of sodium phenylbutyrate
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Actual pay is set by the research site.
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