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

About

Brief 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 detoxification of ammonia. Individuals with OTC deficiency can build-up excess levels of ammonia in their blood, potentially resulting in devastating consequences, including cumulative and irreversible neurological damage, coma and death. The severe form of the condition emerges shortly after birth and is more common in boys than girls.

This is a Phase 1/2, open-label, multicenter, safety and dose finding study of ECUR-506 in male babies with neonatal onset OTC deficiency. The primary objective of this study is to evaluate the safety and tolerability of multiple dose levels of ECUR-506 following intravenous (IV) administration of a single dose.

Primary Purpose

Treatment

Study Type

Interventional

Phase

Phase 1/Phase 2

Eligibility

Gender

Male

Healthy Volunteers

No

Minimum Age

24 Hours

Maximum Age

7 Months

Key Inclusion Criteria:

Male sex
Gestational age ≥ 37 weeks
Age at screening is 24 hours to 7 months*
Weight ≥ 3.5 kg and ≤ 10.0 at screening
Has received all age-appropriate vaccinations
Genetically confirmed OTCD
Severe neonatal OTCD defined by hyperammonemic crisis within first week of life
Current or historical biochemical profile consistent with OTCD
Participant's parent(s)/LAR must be able to comprehend and be willing to provide a signed IRB/IEC-approved ICF.

Key Exclusion Criteria:

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
Known or suspected major organ injury/dysfunction/anomalies.
Treatment with any other gene therapy or gene editing therapy
Co-enrollment in any other clinical study with an investigational product prior to or during the duration of this trial would require the participant to be withdrawn from this study
Any condition, that in the opinion of the Investigator, would compromise the safety of the participant or study data
Documented vertical transmission of HSV, HIV, or HepA/HepB/HepC
Documented in-utero teratogen, substance, and/or alcohol exposure, which in the opinion of the Investigator may increase the participant's risk of developmental delays, congenital anomalies, and/or significant medical complications