RecruitingPhase 1/2

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

United States20 participantsStarted 2024-04-08

Plain-language 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.

Who can participate

Age range24 Hours – 7 Months

SexMALE

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. Male sex
✓. Gestational or adjusted (corrected) gestational age ≥ 37 weeks
✓. Age at screening is 24 hours to 7 months
✓. Weight ≥ 3.5 kg and ≤ 13.5 kg at screening
✓. Has received age-appropriate vaccinations
✓. Genetically confirmed OTCD defined by genetic confirmation of an OTC variant (pathogenic or likely pathogenic) associated with severe neonatal OTCD defined below in Inclusion Criteria #7 or has the same OTC variant as a family member who had severe neonatal OTCD within first week of life.
✓. Severe neonatal OTCD defined by hyperammonemic crisis with elevated ammonia level of \>560 μmol/L and clinical symptoms within first week of life, and currently receiving treatment with both dietary protein restriction and nitrogen scavenger therapy.
✓. Current or historical biochemical profile consistent with OTCD

Exclusion criteria

What they're measuring

Treatment-emergent adverse events (incidence, severity, seriousness, and relatedness)

Timeframe: Over 24 weeks post infusion

Physical exam parameters

Timeframe: Assessed as change from baseline at pre-specified timepoints as described in the SOE throughout the duration of the study on all enrolled and dosed participants.

Vital sign parameters

Timeframe: Assessed as change from baseline at pre-specified timepoints as described in the SOE throughout the duration of the study on all enrolled and dosed participants.

Pediatric neurologist exam parameters

Timeframe: Assessed as change from baseline at pre-specified timepoints as described in the SOE throughout the duration of the study on all enrolled and dosed participants.

Blood safety tests including hematology, serum chemistry, liver function tests, coagulation tests

Timeframe: as change from baseline at pre-specified timepoints as described in the SOE throughout the duration of the study on all enrolled and dosed participants.

Urinalysis evaluations

Timeframe: Assessed as change from baseline at pre-specified timepoints through Week 24 post infusion.

Trial details

NCT IDNCT06255782

SponsoriECURE, Inc.

Sponsor typeINDUSTRY

Study typeINTERVENTIONAL

Primary completion2027-12

Contact for this trial

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

1-877-694-3558 medinfo@iecure.com

View on ClinicalTrials.gov More Ornithine Transcarbamylase Deficiency trials

Plain-language summary

Who can participate

Age range24 Hours – 7 Months

SexMALE

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. Male sex
✓. Gestational or adjusted (corrected) gestational age ≥ 37 weeks
✓. Age at screening is 24 hours to 7 months
✓. Weight ≥ 3.5 kg and ≤ 13.5 kg at screening
✓. Has received age-appropriate vaccinations
✓. Genetically confirmed OTCD defined by genetic confirmation of an OTC variant (pathogenic or likely pathogenic) associated with severe neonatal OTCD defined below in Inclusion Criteria #7 or has the same OTC variant as a family member who had severe neonatal OTCD within first week of life.
✓. Severe neonatal OTCD defined by hyperammonemic crisis with elevated ammonia level of \>560 μmol/L and clinical symptoms within first week of life, and currently receiving treatment with both dietary protein restriction and nitrogen scavenger therapy.
✓. Current or historical biochemical profile consistent with OTCD

Exclusion criteria

What they're measuring

Treatment-emergent adverse events (incidence, severity, seriousness, and relatedness)

Timeframe: Over 24 weeks post infusion

Physical exam parameters

Timeframe: Assessed as change from baseline at pre-specified timepoints as described in the SOE throughout the duration of the study on all enrolled and dosed participants.

Vital sign parameters

Timeframe: Assessed as change from baseline at pre-specified timepoints as described in the SOE throughout the duration of the study on all enrolled and dosed participants.

Pediatric neurologist exam parameters

Timeframe: Assessed as change from baseline at pre-specified timepoints as described in the SOE throughout the duration of the study on all enrolled and dosed participants.

Blood safety tests including hematology, serum chemistry, liver function tests, coagulation tests

Timeframe: as change from baseline at pre-specified timepoints as described in the SOE throughout the duration of the study on all enrolled and dosed participants.

Urinalysis evaluations

Timeframe: Assessed as change from baseline at pre-specified timepoints through Week 24 post infusion.