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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

NCT ID: NCT06255782

Last Updated: 2025-11-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

PHASE1/PHASE2

Total Enrollment

8 participants

Study Classification

INTERVENTIONAL

Study Start Date

2024-04-08

Study Completion Date

2026-09-30

Brief Summary

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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.

Detailed Description

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The study drug, ECUR-506, is an investigational gene editing therapy. Gene editing is a way to repair, replace, or introduce new copies of genes that don't work. The study drug contains a working copy of the OTC gene that will be delivered by an IV infusion. It also contains a gene to encode the editing enzyme which is the part of the study drug that can cut DNA so that the OTC gene can be inserted. The study drug was designed to introduce a working copy of the OTC gene and a gene to encode the editing enzyme. A gene cannot enter cells by itself, it needs a delivery mechanism to move the gene into the cells. In this study, a commonly used virus called adeno-associated virus (AAV) is used to enter the cells and deliver the genes.

Conditions

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

Keywords

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Amino Acid Metabolism, Inborn Errors Ammonia Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Genetic Diseases, Inborn Genetic Diseases, X-Linked High Ammonia Hyperammonemia Inborn Inborn Errors Liver Disease Liver Transplant Metabolism Metabolic Diseases Metabolism, Inborn Errors Neonatal Nervous System Diseases NH4 Ornithine Ornithine Transcarbamylase Deficiency OTC OTC Deficiency OTCD Transcarbamylase UCD Urea Cycle Disorders X-Linked

Study Design

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Allocation Method

NON_RANDOMIZED

Intervention Model

SEQUENTIAL

Dose escalation with dose staggering. Dose selection will be based on an assessment of the totality of the safety and efficacy.
Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Low Dose Level

Participants will receive the Low Dose of ECUR-506 delivered one time via IV Infusion.

Group Type EXPERIMENTAL

ECUR-506

Intervention Type GENETIC

ECUR-506 is a gene editing treatment delivering a gene encoding the editing enzyme and an OTC gene.

High Dose Level

Participants will receive a higher dose of ECUR-506 delivered one time via IV infusion.

Group Type EXPERIMENTAL

ECUR-506

Intervention Type GENETIC

ECUR-506 is a gene editing treatment delivering a gene encoding the editing enzyme and an OTC gene.

Intermediate Dose Level

Additional Cohorts based on recommendations of DMC review of safety and efficacy data.

Group Type EXPERIMENTAL

ECUR-506

Intervention Type GENETIC

ECUR-506 is a gene editing treatment delivering a gene encoding the editing enzyme and an OTC gene.

Interventions

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ECUR-506

ECUR-506 is a gene editing treatment delivering a gene encoding the editing enzyme and an OTC gene.

Intervention Type GENETIC

Eligibility Criteria

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Inclusion 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.

Exclusion Criteria

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
Minimum Eligible Age

24 Hours

Maximum Eligible Age

7 Months

Eligible Sex

MALE

Accepts Healthy Volunteers

No

Sponsors

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iECURE, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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George Diaz, M.D., Ph.D

Role: STUDY_DIRECTOR

iECURE, Inc.

Locations

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UCLA Mattel Children's Hospital

Los Angeles, California, United States

Site Status RECRUITING

Children's Hospital of Colorado, Anshutz Medical Campus

Aurora, Colorado, United States

Site Status RECRUITING

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, United States

Site Status RECRUITING

Icahn School of Medicine at Mount Sinai

New York, New York, United States

Site Status RECRUITING

The Children's Hospital at Westmead

Sydney, New South Wales, Australia

Site Status RECRUITING

The Royal Children's Hospital

Melbourne, Victoria, Australia

Site Status RECRUITING

Hopsital Sant Joan de Deu

Barcelona, , Spain

Site Status RECRUITING

Hospital Universitario 12 de Octubre

Madrid, , Spain

Site Status RECRUITING

Great Ormond Street Hospital

London, , United Kingdom

Site Status RECRUITING

The Newcastle upon Tyne Hospitals NHS Foundation Trust- Great North Children's Hospital

Newcastle upon Tyne, , United Kingdom

Site Status RECRUITING

Countries

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United States Australia Spain United Kingdom

Central Contacts

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Trial Recruitment

Role: CONTACT

Email: [email protected]

George Diaz, M.D., Ph.D.

Role: CONTACT

Phone: 1-877-694-3558

Email: [email protected]

Facility Contacts

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Monserrath Campos

Role: primary

Ruth Fisseha

Role: primary

Michael Sawin

Role: primary

Silvia Gunderson

Role: primary

Shanti Balasubramaniam, MD

Role: primary

Heidi Peters, MD, PhD

Role: primary

Angels Garcia-Cazorla, PhD, MD

Role: primary

Marcello Bellusci, MD

Role: primary

Christopher Jackson

Role: primary

Mark Anderson, MD

Role: primary

Other Identifiers

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OTC HOPE

Identifier Type: OTHER

Identifier Source: secondary_id

ECUR-506-OTC-101

Identifier Type: -

Identifier Source: org_study_id