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.
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.
Study Type
OBSERVATIONAL
Enrollment
1
No Intervention
PPD Phase 1 Clinic - Orlando
Orlando, Florida, United States
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
Time frame: Predose (0hour) up to 4 hours post dose at Baseline, Weeks 24, 48, 72, and 96
OTC Genotype
Genotype in blood
Time frame: Up to 96 weeks
Rate of Hyperammonemic Crisis (HAC)
Time frame: Up to 96 weeks
Cognitive assessment
Cogstate platform
Time frame: Up to 96 weeks
Hyperammonemia Indicator Questionnaire (HI-Q)
Patient-reported outcome (PRO) for symptoms of hyperammonemia
Time frame: Up to 96 weeks
OTC Deficiency Impact Questionnaire (OTC-D-IQ)
PRO for impact of hyperammonemia
Time frame: Up to 96 weeks
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