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

Description

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 1/2/3, open-label, multicenter, safety, efficacy, 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, tolerability, and efficacy of up to three dose levels of ECUR-506 following intravenous (IV) administration of a single dose.

Conditions

Ornithine Transcarbamylase DeficiencyOrnithine Transcarbamylase Deficiency DiseaseOrnithine Carbamoyltransferase Deficiency (Disorder)Urea Cycle Disorders, Inborn
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Related Conditions:

Ornithine Transcarbamylase DeficiencyOrnithine Transcarbamylase Deficiency DiseaseOrnithine Carbamoyltransferase Deficiency (Disorder)Urea Cycle Disorders, Inborn

Study Overview

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Study Details

Study overview

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 1/2/3, open-label, multicenter, safety, efficacy, 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, tolerability, and efficacy of up to three dose levels of ECUR-506 following intravenous (IV) administration of a single dose.

A Phase 1/2/3 First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Efficacy of a Single Intravenous (IV) Administration of ECUR-506 in Males Less Than 9 Months of Age With Genetically Confirmed Neonatal Onset Ornithine Transcarbamylase (OTC) Deficiency

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

Condition
Ornithine Transcarbamylase Deficiency
Intervention / Treatment

-

Contacts and Locations

Los Angeles

UCLA Mattel Children's Hospital, Los Angeles, California, United States, 90095

Aurora

Children's Hospital of Colorado, Anshutz Medical Campus, Aurora, Colorado, United States, 80045

New York

Icahn School of Medicine at Mount Sinai, New York, New York, United States, 10029

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 1. Male sex
  • 2. Gestational or adjusted (corrected) gestational age ≥ 37 weeks
  • 3. Age at screening is 24 hours to 7 months
  • 4. Weight ≥ 3.5 kg and ≤ 13.5 kg at screening
  • 5. Has received age-appropriate vaccinations
  • 6. Genetically confirmed OTCD
  • 7. Severe neonatal OTCD defined by hyperammonemic crisis with elevated ammonia level of \>560 μmol/L and clinical symptoms within first week of life
  • 8. Current or historical biochemical profile consistent with OTCD
  • 9. Participant's parent(s)/LAR must be able to comprehend and be willing to provide a signed IRB/IEC-approved ICF.
  • 1. Neonatal diagnosis of severe to profound Hypoxic Ischemic Encephalopathy due to birth injury
  • 2. Requiring urgent liver transplant due to liver failure as assessed by the PI.
  • 3. 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.
  • 4. Known or suspected major organ injury/dysfunction/anomalies.
  • 5. Vital sign abnormalities
  • 6. Laboratory abnormalities outside of laboratory normal ranges for urinalysis, complete blood count, and comprehensive metabolic panel that are attributable to comorbidities unrelated to OTCD
  • 7. Treatment with any other gene therapy or gene editing therapy
  • 8. Co-enrollment in any other clinical study unless approved by the sponsor.
  • 9. Any condition, that in the opinion of the Investigator, would compromise the safety of the participant or study data
  • 10. Documented vertical transmission of HepA/HepB/HepC
  • 11. 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

Ages Eligible for Study

24 Hours to 7 Months

Sexes Eligible for Study

MALE

Accepts Healthy Volunteers

No

Collaborators and Investigators

iECURE, Inc.,

George Diaz, M.D., Ph.D, STUDY_DIRECTOR, iECURE, Inc.

Study Record Dates

2026-09