An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency
Start Date
4/8/2024
Completion Date
12/1/2027
Summary
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.
Detailed Description
The study drug, ECUR-506, is an investigational gene editing therapy. Gene editing is an approach used to repair, replace, or introduce functional copies of genes that are not working properly. ECUR-506 contains a functional copy of the OTC gene, along with a gene to encode an editing enzyme that enables insertion of the OTC gene into the genome. The study drug is administered as a single IV infusion. Because genes cannot enter cells on their own, ECUR-506 uses a delivery system based on adeno-associated virus (AAV), a commonly used viral vector, to transport the genetic material into cells.
Eligibility Criteria
Age Range: No minimum to No maximum
Interventions
ECUR-506
Conditions
Locations
UCLA Mattel Children's Hospital
Los Angeles, California 90095
United States
Children's Hospital of Colorado, Anshutz Medical Campus
Aurora, Colorado 80045
United States
Emory University School of Medicine
Atlanta, Georgia 30322
United States
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois 60611
United States
Icahn School of Medicine at Mount Sinai
New York, New York 10029
United States
Oregon Health and Science University
Portland, Oregon 97239
United States
The Children's Hospital at Westmead
Sydney, New South Wales
Australia
The Royal Children's Hospital
Melbourne, Victoria 3052
Australia
Hopsital Sant Joan de Deu
Barcelona, 08950
Spain
Hospital Universitario 12 de Octubre
Madrid, 28041
Spain
Great Ormond Street Hospital
London,
United Kingdom
The Newcastle upon Tyne Hospitals NHS Foundation Trust- Great North Children's Hospital
Newcastle upon Tyne,
United Kingdom