Home Monitoring of Metabolic Disorders

项目总结 本建议书直接响应NOT-HD-22-009特殊利益通知(NOSI)：创新 技术，以改善评估、干预和个人成果 发育障碍[IDD](R43/R44)。患有某些代谢紊乱的所有年龄段的人都有患上 代谢危机当某种代谢物积累时，而这种代谢物可以在临床上测量 实验室，目前还没有基于家庭的设备来监测导致代谢危机的代谢物。 我们团队的长期目标是减少与以下相关的代谢危机的发病率和死亡率 一定的新陈代谢积累。通过之前和正在进行的国家科学基金会和国家科学基金 在卫生研究院小企业创新研究基金的资助下，我们开发了一种家用设备 从一滴血中准确地测量这种代谢物，并正在努力实现FDA的批准。整体而言 这项建议的目的是调查每日以家庭为基础监测目标代谢物的影响 使用我们开发的设备。这将是首次在家中测量代谢物。 以国内的目标人群为衡量标准。 我们的中心假设是，当参与者在家中测量空腹和早晨的代谢物水平时 在获得升高的代谢物结果和患者进一步服用之间存在关联。 采取行动联系他们的医疗团队，进一步监测或采取措施降低代谢物水平。 我们的具体目标是：1)在10名有疾病风险的参与者中进行临床试验 提高代谢物水平，2)分析收集的大量数据，3)准备一份 结果。为了完成我们的方法，我们将从俄勒冈州现有的患者群体中招募患者 健康与科学大学。我们将从参与者的医疗记录、观察、 并对设备进行每日代谢物测量。 这项研究具有创新性，因为它第一次提供了一种直接的、基于家庭的设备 用于测量目标代谢物。在本项目结束时，我们希望更多地了解 居家代谢物监测对病人护理的影响。

PROJECT SUMMARY This proposal is submitted in direct response to NOT-HD-22-009 Notice of Special Interest (NOSI): Innovative Technologies to Improve Assessments, Interventions, and Outcomes for Individuals with Intellectual and Developmental Disabilities [IDD] (R43/R44). Persons of all ages with certain metabolic disorders are at-risk for metabolic crises when a certain metabolite accumulates, while this metabolite can be measured in a clinical laboratory, currently there is no home-based device to monitor the metabolie that causes the metabolic crises. Our team’s long-term goal is to reduce the morbidity and mortality of metabolic crises associated with certain metabolic accumulation. Through previous and ongoing National Science Foundation and National Institutes of Health Small Business Innovation Research funding, we have developed an at-home device to accurately measure this metabolite from a drop of blood and are working towards FDA clearance. The overall objective of this proposal is to investigate the impact of daily home-based monitoring of the target metabolite using the device we developed. This will be the first time that at-home measurement of the metabolite will be measured in the target population at home. Our central hypothesis is that when participants measure at-home, fasting, morning metabolite levels there will be an association between getting an elevated metabolite result and then the patient taking further action to contacting their medical team to further monitor or take steps to reduce the metabolite level. Our specific aims are 1) to perform a clinical trial in 10 participants with disorders resulting in risk of elevated metabolite levels, 2) to analyze the extensive data collected, and 3) to prepare a manuscript of the results. To complete our approach we will recruit patients from the available patient population at Oregon Health & Science University. We will collect extensive data from the participant medical record, observations, and the device daily metabolite measurements. This research is innovative because, for the first time, it provides a straightforward, home-based device for measurement of the target metabolite. At the conclusion of this project, we expect to understand more the impact of home-based metabolite monitoring on patient care.