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

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

TERMINATED

Total Enrollment

1 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-10-06

Study Completion Date

2021-12-15

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Ornithine Transcarbamylase Deficiency

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Adult Patients with OTC Deficiency

Eligible subjects will be asked to participate in 5 clinic visits, each lasting up to 3 days. Each visit will assess rate of ureagenesis during the 4 hours following ingestion of \[1-13C\]sodium acetate. Sodium acetate is used as a tracer to measure the rate of ureagenesis. Patient interview, reported outcomes and cognitive assessments will take place over the 3 days.

No Intervention

Intervention Type OTHER

No Intervention

Interventions

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No Intervention

Intervention Type OTHER

Eligibility Criteria

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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.

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

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No