Pilot Study of At Home Ammonia Monitoring in Patients With an Inborn Error of Ammonia Metabolism
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 30
- 试验地点
- 2
- 主要终点
- Percentage of daily ammonia measurements completed.
研究概览
简要总结
The goal of this observational study is to learn if people with certain ammonia metabolism disorders will measure their ammonia levels at home.
The main question it aims to answer is:
• Will participants measure their ammonia every day?
Participants will be asked to:
- Attend two in-person study visits at the clinic.
- Measure temperature, heart rate, and blood oxygen every day.
- Complete a short survey every day.
- Measure ammonia every day.
详细描述
Ammonium (NH4+, ion in aqueous solution) exists in equilibrium with ammonia (NH3, gas) according to the equilibrium reaction: NH3+ + H+ ↔ NH4+, which has a pKa of 9.25.[1] Total ammonia is the sum of all ammonium ions (NH4+) and ammonia gas (NH3) present. At the physiologically relevant pH of blood (~7.4), the ammonium/ammonia equilibrium is almost completely shifted to NH4+.[2] Total ammonia is colloquially referred to as ammonia in clinical medicine and clinical chemistry. Thus, the term ammonia in this document refers to total ammonia unless otherwise specified.
Ongoing metabolic processes in the human body continuously generate ammonia.[1,3-8] Ammonia is produced in all tissues of the body, mainly by the process of transamination followed by deamination, from biogenic amines and amino groups of nitrogenous bases (e.g., purines, pyrimidines), and within the intestine by intestinal bacterial flora through the action of urease on urea.[1, 7] Much of the ammonia produced in the intestine travels to the liver via the portal circulation. Ammonia produced by the kidneys variably clears the body in urine or enters the systemic circulation via the renal veins.[7-9]
Ammonia levels within an individual are highly dynamic over the course of a day based on dietary and exercise status.
Because of the dynamic ongoing metabolic cellular processes that generate and dispose of ammonia, accurate measurement of ammonia can be challenging; cellular components in blood may continue to create ammonia after the blood is drawn, amino acids may deaminate nonenzymatically or enzymatically. Blood samples should be immediately measured. If not immediately measured, then blood samples should be kept on ice and measured within 30 minutes of collection.
Ammonia is toxic to the central nervous system.[10]
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Device Feasibility
- 盲法
- None
入排标准
- 年龄范围
- 12 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Confirmed ammonia disorder such as
- •Ornithine transcarbamylase deficiency
- •Systemic primary carnitine deficiency
- •Type I citrullinemia
- •Argininosuccinic aciduria
- •Isolated methylmalonic acidemia
- •Type II citrullinemia
- •Propionic acidemia
- •Isovaleric acidemia
- •Multiple acyl-CoA dehydrogenase deficiency
- •Pyruvate carboxylase deficiency
- •Argininemia (arginase deficiency)
- •Carbamoyl phosphate synthase I deficiency
- •Dihydrolipoamide dehydrogenase deficiency
- •Lysinuric protein intolerance
- •Hyperornithinemia-hyperammonemia-homocitrullinuria
- •Carnitine-acylcarnitine translocase deficiency
- •Carbonic anhydrase VA deficiency
- •N-acetyl glutamate synthetase deficiency
- •English Literacy
排除标准
- •Incarcerated
- •Presence of a non-inborn error of metabolism medical condition associated with abnormal ammonia metabolism (e.g., end stage liver disease).
- •Unable to read in English
研究组 & 干预措施
Ammonia Device
干预措施: Ammonia Study Device (Diagnostic Test)
结局指标
主要结局
Percentage of daily ammonia measurements completed.
时间窗: through individual participant study completion - approximately 240 days per participant with an optional 120 day additional extension period available.
Daily ammonia measurements will be completed on the ammonia study device. A single participant will have a single device. The device will store information about the time, date, and results from the measurements completed. The primary hypothesis is that participants will complete 90% of the daily ammonia measurements during their individual study periods.
次要结局
- Descriptive Statistics and Correlations(From enrollment through study completion, this is an average of 240 days per participant. If a participant chooses to participate in the optional study extension then the time frame will be approximately 360 days per participant.)