A Diet Tracking, Monitoring and Optimization mHealth Tool for Patients with Inborn Errors of Metabolism

先天性代谢错误(IEM)是一组罕见的遗传性(遗传性)疾病，会导致代谢途径受阻，导致临床上严重的后果，导致发育和智力残疾、癫痫发作，如果不治疗，还会昏迷和死亡。大多数IEM障碍是通过单独操纵和修改饮食以减少有毒代谢物，或结合饮食修改和药物治疗来管理的。IEM使用的复杂饮食疗法挑战了常规的饮食建议，并使为普通公众设计的饮食应用程序在这些条件下几乎没有用处。此外，没有专门为IEM社区开发的饮食APP，它满足了研究所需的严格要求，特别是需要测量饮食中特定和多种氨基酸的含量，以便于更多地研究对脑神经化学的影响。在IEM领域，使用三天饮食日记来监测食物摄入量。由于回忆错误和其他因素，这些日记经常不足以记录实际正在消费的内容。需要新的方法来评估IEM患者的饮食摄入量并提出个性化的饮食建议，以减少饮食跟踪负担并提高饮食建议的充分性。我们建议开发和验证MyRareDiet，以解决IEM人群中未得到满足的需求，以帮助进行饮食管理，旨在提高依从性和遵从性，从而改善结果，同时促进收集IEM患者的饮食数据用于研究目的。MyRareDiet包括患者门户网站、临床营养师门户网站和研究人员门户网站。患者门户网站帮助IEM患者跟踪和监控他们自己的饮食，以便他们能够满足他们严格的饮食目标和限制。临床营养师门户网站帮助临床营养师为患有IEM的个人管理饮食修改。研究人员门户网站旨在促进以饮食为基础的研究的开展和研究结果的分析。第一阶段的目标是：1)通过焦点小组从利益相关者那里收集利益相关者的反馈，包括IEM患者/护理者、营养师和研究人员；2)使用以用户为中心的设计和最新的移动电子技术开发MyRareDiet原型系统；3)进行原型评估，包括可用性和有用性测试以及验证性研究，比较使用MyRareDiet记录的患者/护理者饮食与营养专业学生使用另一种饮食记录工具采访患者/护理者记录的饮食。我们的成功标准是基于对系统可用性(&gt；=77.8)、感知有用性(&gt；=4)以及患者/护理者和营养学学生记录的饮食的一致性(&gt；90%)的评估。

Inborn errors of metabolism (IEM) are a group of rare genetic (inherited) disorders that cause a block in a metabolic pathway leading to clinically significant consequences, causing developmental and intellectual disabilities, seizures, and, if untreated, coma and death. The majority of the IEM disorders are managed by manipulation and modification of diet alone to reduce toxic metabolites, or with a combination of dietary modification and medications. The complex dietary therapies used in IEM challenge routine dietary recommendations and render diet apps designed for the general public of little utility in these conditions. Also, no diet app is developed specifically for the IEM community and meets the rigor required for research, particularly the need to measure specific and multiple amino acid content in the diet to facilitate more study on impact on brain neurochemistry. Within the field of IEM, the use of three-day diet diaries is utilized to monitor food intake. These diaries are frequently inadequate in capturing what is actually being consumed due to recall errors and other factors. Novel methods of assessing dietary intake and making individualized dietary recommendations for people with IEM are required to reduce the diet tracking burden and to improve the adequacy of dietary recommendations. We propose to develop and validate MyRareDiet to address an unmet need in the IEM population to assist with dietary management designed to increase adherence and compliance that leads to improved outcomes, while facilitating the collection of dietary data from individuals with IEM for research purposes. MyRareDiet includes a Patient Portal, a Clinical Dietician Portal, and a Researcher Portal. The Patient Portal is to help IEM patients track and monitor their own diet so they can meet their strict diet targets and restrictions. The Clinical Dietician Portal is to help clinical dieticians manage diet modifications for individuals with IEM. The Researcher Portal is to facilitate the conduct of diet-based studies and the analysis of study results. The aims for Phase I are: 1) Collect stakeholder feedback from stakeholders, including IEM patients/caregivers, dietitians, and researchers via focus groups; 2) Develop the prototype MyRareDiet system using user-centered design and the latest mobile-enabled e-technologies; 3) Conduct prototype evaluation including usability and usefulness tests and validation study comparing patient/caregiver-recorded diets using MyRareDiet and those recorded by nutrition students interviewing patients/caregivers with another diet recording tool. Our success criteria are based on evaluations on system usability (>=77.8), perceived usefulness (>=4), and the agreement (> 90%) of diets recorded by patients/caregivers and those by nutrition students.