MyRareDiet: A Diet Tracking, Monitoring and Optimization mHealth Solution for Patients with Inborn Errors of Metabolism

工程摘要 先天性代谢缺陷（IEM）是一组罕见的遗传（遗传）疾病，导致一个块在一个 代谢途径导致临床显著后果，引起发育和智力 残疾，癫痫，如果不治疗，昏迷和死亡。大多数IEM疾病的管理 单独操纵和改变饮食以减少有毒代谢物，或与饮食 修改和药物。IEM中使用的复杂饮食疗法挑战了常规饮食疗法。 建议，并使饮食应用程序设计的一般公众在这些条件下几乎没有用处。还有， 没有饮食应用程序是专门为IEM社区开发的，符合研究所需的严格性， 特别是需要测量饮食中特定和多种氨基酸的含量，以促进更多的研究， 对大脑神经化学的影响。在IEM领域，纸质饮食日记被用来监测食物摄入。 由于回忆错误，这些日记通常不足以捕捉实际消费的内容， 其他因素需要评估饮食摄入的新方法来减少饮食跟踪负担， 提高饮食调查的准确性，并提高饮食依从性。 我们建议开发和验证MyRareDiet®（MRD），以解决IEM人群中未满足的需求， 协助饮食管理，旨在提高依从性，从而改善 结果，同时促进从IEM个体收集饮食数据用于研究目的。MRD 包括患者门户、临床营养师门户和研究人员门户。患者门户网站旨在帮助IEM 患者跟踪和监测自己的饮食，以便他们能够满足严格的饮食目标和限制。临床 营养师门户网站是帮助临床营养师管理与IEM个人的饮食调整。研究者 门户网站是为了方便进行基于饮食的研究和分析研究结果。 第二阶段的目标是：1）通过增加功能来改进和完善第一阶段MRD原型， 饮食报告准确性，减轻用户负担; 2）进行标准有效性研究以测试一致性 MRD与广泛使用且经过验证的基于访谈的24小时回忆方法之间的关系;以及3）进行 随机对照试验，以评估使用MRD对参与者饮食跟踪和监测的影响 行为。我们的假设是，与纸质饮食日记相比，使用MRD将导致1）更高的 对更严格地遵守饮食摄入量自我报告感到满意;以及2）蛋白质摄入量更接近 与蛋白质限制性靶标对齐。

Project Abstract 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, paper diet diaries are 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 are required to reduce the diet tracking burden, improve accuracy in dietary surveys, and improve diet adherence. We propose to develop and validate MyRareDiet® (MRD) to address an unmet need in the IEM population to assist with dietary management designed to increase adherence and compliance that could lead to improved outcomes, while facilitating the collection of dietary data from individuals with IEM for research purposes. MRD 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 II are: 1) enhance and refine the Phase I MRD prototype by adding features to improve diet reporting accuracy and reduce user burden; 2) conduct a criterion validity study to test the agreement between MRD and a widely used and validated interview-based 24-hour recall method; and 3) conduct a randomized controlled trial to assess the effects of using MRD on participants’ diet tracking and monitoring behaviors. Our hypotheses are that compared to paper diet diaries, the use of MRD will result in 1) higher satisfaction with greater adherence to self-reporting of dietary intake; and 2) protein consumption more closely aligned to protein restriction target.