Transforming the management of Urea Cycle Disorders using non-invasive breath ammonia monitoring

使用无创呼吸氨监测转变尿素循环障碍的管理

• 批准号: 52353
• 金额: $ 48.49万
• 依托单位: BREATHDX (UK) LIMITED
• 依托单位国家: 英国
• 项目类别: Study
• 财政年份: 2020
• 资助国家: 英国
• 起止时间: 2020 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=52353
• 关键词: Transforming; management; Urea; Cycle; Disorders

**Urea Cycle Disorders (UCDs) are genetic conditions which lead to severe lifelong disability and early death**. They cause a buildup of ammonia, which is toxic, and result in serious and permanent brain damage. They tend to go undiagnosed at birth until the onset of illness, before damage has already occurred. These conditions are very difficult to manage, requiring regular visits to specialist care centres, which is extremely stressful and disruptive to family life. It has been described as "like living with a time bomb". Currently, ammonia can only be measured effectively in the hospital. There is no way to manage these conditions in the patients' homes. Having a way for patients and families to measure and monitor their ammonia at home would lead to significant improvements in the management of UCDs, and lead to significant improvements in patient quality and quantity of life, while also reducing the burden on the healthcare system.**BreathDX is working with its regional partners, UWE Bristol, University of Bristol and University Hospitals Bristol and Weston NHS Trust to bring its AmBeR breath ammonia measurement technology to UCD patients**. AmBeR is a simple to use, non-invasive means of measuring ammonia levels using breath. It has the potential to eliminate the unpredictability of managing UCD, reducing the heavy care burden and costs associated with lost income and time spent accessing health services. It also has the potential to improve the quality and quantity of life of sufferers, by improving both acute and chronic care management. It would also reduce the burden on the health service, reducing costs and improving efficiency and workflow.

** 尿素循环障碍（UCD）是导致严重终身残疾和过早死亡的遗传性疾病 **。它们会导致有毒的氨积聚，并导致严重和永久性的脑损伤。他们往往在出生时未被诊断出来，直到疾病发作，在损害已经发生之前。这些情况很难控制，需要定期到专科护理中心就诊，这对家庭生活造成极大的压力和破坏。有人说，这就像“生活在一个定时炸弹中”。目前，氨只能在医院有效测量。没有办法在病人家中管理这些情况。如果患者和家属能够在家中测量和监测他们的氨，将大大改善UCD的管理，并显著改善患者的生活质量和数量，同时减轻医疗保健系统的负担。BreathDX正在与其区域合作伙伴UWE布里斯托，布里斯托大学和大学医院布里斯托和韦斯顿NHS信托基金合作，将其AmBeR呼吸氨测量技术带给UCD患者 **。AmBeR是一种使用呼吸测量氨水平的简单易用的非侵入性方法。它有可能消除管理UCD的不可预测性，减少沉重的护理负担和与收入损失和获得医疗服务所花费的时间相关的成本。它还具有通过改善急性和慢性护理管理来提高患者生活质量和数量的潜力。它还将减轻保健服务的负担，降低成本，提高效率和改善工作流程。