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
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 1
- 试验地点
- 1
- 主要终点
- Hyperammonemia Indicator Questionnaire (HI-Q)
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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
结局指标
主要结局
Hyperammonemia Indicator Questionnaire (HI-Q)
时间窗: Up to 96 weeks
Patient-reported outcome (PRO) for symptoms of hyperammonemia
Rate of Hyperammonemic Crisis (HAC)
时间窗: Up to 96 weeks
OTC Genotype
时间窗: Up to 96 weeks
Genotype in blood
Rate over time of ureagenesis for 4 hours based on presence of [1-13C] in urea
时间窗: Predose (0hour) up to 4 hours post dose at Baseline, Weeks 24, 48, 72, and 96
Urea excretion after ingestion of sodium acetate as measured in blood
Cognitive assessment
时间窗: Up to 96 weeks
Cogstate platform
OTC Deficiency Impact Questionnaire (OTC-D-IQ)
时间窗: Up to 96 weeks
PRO for impact of hyperammonemia
次要结局
未报告次要终点