Study of ECUR-506 Gene Therapy in Male Babies Under 9 Months With Severe Neonatal Ornithine Transcarbamylase Deficiency

What this Trial Is About

Ornithine Transcarbamylase OTC deficiency is a genetic metabolic disorder mainly affecting male babies, caused by a defect in a liver enzyme that helps remove ammonia from the blood. This condition can lead to high ammonia levels resulting in serious brain damage, coma, or death, especially in severe cases presenting shortly after birth. The study is a Phase 123, open-label, multicenter trial designed to assess the safety, effectiveness, and dosing of ECUR-506 in male infants with neonatal-onset OTC deficiency. ECUR-506 is an investigational gene editing therapy that delivers a working OTC gene and an editing enzyme using a virus-based delivery system called adeno-associated virus AAV. The treatment is given as a single intravenous infusion at one of three dose levels low, intermediate, or high. Participants receive only one dose during the study to evaluate safety and response. During the study, participants will be monitored for 24 weeks after receiving the infusion. Researchers will assess safety through physical exams, vital signs, neurological exams, blood and urine tests, ECGs, and adverse events. They will also evaluate effectiveness by tracking episodes of high ammonia, hospitalizations, liver transplant requirements, survival, and clinical responses. This close monitoring aims to understand how the gene therapy works and its impact on the condition.

An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency