Ornithine Transcarbamylase (OTC) deficiency, the most common urea cycle disorder, is an inherited metabolic disorder caused by a genetic defect in a liver enzyme responsible for detoxifying of ammonia. Individuals with OTC deficiency can develop elevated levels of ammonia in the blood, potentially resulting in severe consequences, including cumulative and irreversible neurological damage, coma, and death. The most severe form presents shortly after birth and occurs more commonly in boys than girls.
This is a Phase 1/2/3, open-label, multicenter study evaluating the safety, efficacy, and dose of ECUR-506 in male babies with neonatal-onset OTC deficiency. The primary objective is to evaluate the safety, tolerability, and efficacy of up to three dose levels of ECUR-506 following intravenous (IV) administration of a single dose.
Male sex
Gestational or adjusted (corrected) gestational age ≥ 37 weeks
Age at screening is 24 hours to 7 months
Weight ≥ 3.5 kg and ≤ 13.5 kg at screening
Neonatal diagnosis of severe to profound Hypoxic Ischemic Encephalopathy due to birth injury
Requiring urgent liver transplant due to liver failure as assessed by the PI.
Contiguous gene deletion involving the OTC gene and including at least the CYBB gene on the telomeric side or the TSPAN7 gene on the centromeric side.
Known or suspected major organ injury/dysfunction/anomalies.