Study to Characterize Rate of Ureagenesis in Patients With Ornithine Transcarbamylase (OTC) Deficiency

Ornithine Transcarbamylase Deficiency Clinical Trial

Official title:

A Study to Characterize Rate of Ureagenesis Utilizing Oral [1-13C] Sodium Acetate in the Spectrum of Severity of Patients With Ornithine Transcarbamylase (OTC) Deficiency

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT04717453
• Other study ID #: DTX301-CL102
• Status: Terminated
• Start date: October 6, 2020
• Est. completion date: December 15, 2021

Study information

• Verified date: February 2022
• Source: Ultragenyx Pharmaceutical Inc
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

The objectives of the study are to characterize urea production rates in patients with OTC, characterize the association of rate of ureagenesis and disease severity in OTC patients, characterize the association of rate of ureagenesis and executive and verbal function and characterize the association of rate of ureagenesis and patient-reported functional status.

Description:

Study DTX301-CL102 is a noninterventional, observational study to characterize the rate of ureagenesis and to assess neurocognition and functional status in the spectrum of OTC deficiency and their association with biochemical characteristics. [1-13C]Sodium acetate will be administered orally as a tracer to measure the rate of ureagenesis.

Recruitment information / eligibility

• Status: Terminated
• Enrollment: 1
• Est. completion date: December 15, 2021
• Est. primary completion date: December 15, 2021
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

Key Inclusion Criteria:

• Willing and able to provide written informed consent.

• For symptomatic patients:

• Confirmed clinical diagnosis of OTC deficiency and enzymatic, biochemical, or molecular testing.

• Documented history of = 1 symptomatic hyperammonemic episode with ammonia level = 100 µmol/L

• Patients on ongoing daily ammonia scavenger therapy must be at a stable dose(s) for = 4 weeks prior to Visit 1 (Baseline)

• For asymptomatic patients: confirmed diagnosis of OTC deficiency by family history and documented by molecular testing.

• Willing and able to comply with the study procedures and requirements, including clinic visits, blood and urine collections, questionnaires, and cognitive assessments.

Key Exclusion Criteria:

• Liver transplant, including hepatocyte cell therapy/transplant.

• History of liver disease

• Significant hepatic inflammation or cirrhosis

• Participation in another investigational medicine study within 3 months of Screening

• Participation (current or previous) in another gene transfer study

• Pregnant or nursing

Other protocol specific criteria may apply

Related Conditions & MeSH terms

• Ornithine Transcarbamylase Deficiency

Intervention

Other:
• No Intervention
No Intervention

Locations

Country	Name	City	State
United States	PPD Phase 1 Clinic - Orlando	Orlando	Florida

Sponsors (1)

Lead Sponsor	Collaborator
Ultragenyx Pharmaceutical Inc

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Rate over time of ureagenesis for 4 hours based on presence of [1-13C] in urea	Urea excretion after ingestion of sodium acetate as measured in blood	Predose (0hour) up to 4 hours post dose at Baseline, Weeks 24, 48, 72, and 96
Primary	OTC Genotype	Genotype in blood	Up to 96 weeks
Primary	Rate of Hyperammonemic Crisis (HAC)		Up to 96 weeks
Primary	Cognitive assessment	Cogstate platform	Up to 96 weeks
Primary	Hyperammonemia Indicator Questionnaire (HI-Q)	Patient-reported outcome (PRO) for symptoms of hyperammonemia	Up to 96 weeks
Primary	OTC Deficiency Impact Questionnaire (OTC-D-IQ)	PRO for impact of hyperammonemia	Up to 96 weeks