PKU Now-Connect: An intelligent digital ecosystem to improve health outcomes in Phenylketonuria

PKU Now-Connect：改善苯丙酮尿症健康结果的智能数字生态系统

• 批准号: 10760659
• 负责人: Robert Harper
• 金额: $ 29.14万
• 依托单位: ANALYTICAL DIAGNOSTIC SOLUTIONS, INC.
• 依托单位国家: 美国
• 财政年份: 2023
• 资助国家: 美国
• 起止时间: 2023-09-20 至 2024-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10760659
• 关键词: Affect; Architecture; Award; Blood; Boston; Caregivers; Chicago; Classical phenylketonuria; Clinic Visits; Clinical; Clinical Research; Code; Collaborations; Communication; Communities; Computer software; Data; Data Set; Databases; Devices; Diet; Dietitian; Disease; Electroencephalography; Essential Amino Acids; Executive Dysfunction; Expert Opinion; Family; Feedback; Food; Goals; Grant; Health; Health Expenditures; Health Personnel; Hereditary Disease; Hyperactivity; Impaired cognition; Inborn Errors of Metabolism; Individual; Intake; Intellectual functioning disability; Intelligence; Internet; Manuals; Marketing; Measurement; Measures; Medical; Medical center; Mental disorders; Mole the mammal; Monitor; Neurologic; Newborn Infant; Outcome; Patients; Pediatric Hospitals; Persons; Pharmaceutical Preparations; Phase; Phenylalanine; Phenylketonurias; Policies; Problem behavior; Proteins; Quality of life; Recommendation; Research Personnel; Scanning; Secure; Seizures; Small Business Innovation Research Grant; Symptoms; Testing; Time; Tremor; United States; Universities; Visualization; base; cloud based; cloud platform; complex data; dashboard; data exchange; data visualization; design; diabetes management; dietary; digital ecosystem; experience; glucose monitor; improved; meter; mobile application; point of care; prototype; recruit; remote health care; remote monitoring; skin disorder; test strip; testing access; usability; user-friendly; web app; wireless communication

Abstract Phenylketonuria (PKU) is an inherited genetic disorder that results in an inability to metabolize the essential amino acid phenylalanine (Phe). Consequences of uncontrolled blood Phe include intellectual disabilities, seizures, skin disorders, tremors, hyperactivity, EEG abnormalities, behavioral problems, executive dysfunction, and psychiatric disorders. PKU affects approximately 1 in 24,000 people and an estimated 450,000 individuals worldwide. In the United States, PKU occurs in 1 out of every 10,000 newborns. PKU patients are recommended to maintain blood Phe levels within 2-6 mg/dL (121-363 µmol/L). This requires a combination of specialized diet, medication, and clinic visits. It is a significant challenge for patients to manage their blood Phe levels due mainly to the lack of real-time feedback on blood Phe levels. The purpose of this Phase I SBIR application is to develop and demonstrate the feasibility of a remote monitoring platform for PKU management centered around an existing point-of-care (POC) device. The PKU Now-Connect will be comprised of a POC meter for measuring blood Phe concentrations, a paired mobile app for displaying results and tracking Phe intake, and an interactive web dashboard with connectivity to experts, dietitians, or healthcare providers. The specific aims for this application are: 1) Finalize the PKU Now Mobile App, 2) Design and Integrate Web Dashboard with Mobile App, and 3) User Experience and Platform Usability Tests. An existing POC meter (previous Phase II award, Project Grant R44GM126593) and prototype mobile app will be used as a base template. In Phase I, a user-friendly mobile app will be designed and tested for tracking Phe intake and blood Phe levels via the POC meter. Next, a database and web dashboard for storing, displaying, and transforming data will be designed, tested, and implemented to a cloud server. Finally, recruited subjects will be asked to use the PKU Now-Connect to assess the user experience and usability of the platform. Expert opinions from the Children’s Hospital of Chicago, the Phenylalanine Families and Researchers Exploring Evidence (PHEFREE) Consortium, and the National PKU Alliance (NPKUA) will be obtained. In Phase II, clinical studies in collaboration with Boston Children’s Hospital and University of Pittsburgh Medical Center will be completed to validate the feasibility of the PKU Now-Connect in a clinical setting with PKU patients. The database will be expanded to include secured patient information, expanded tracking of medication and symptoms, and direct communication with healthcare providers. If the platform is successful, FDA Guidance “Content of Premarket Submission for Device Software Functions” issued Nov. 4, 2021, and “Policy for Device Software Functions for Mobile and Medical Applications” issued Sept. 27, 2019, will be followed for 510 K submission. The PKU Now-Connect will have a significant, positive impact on PKU patients and their caregivers.

抽象的 苯酮尿症（PKU）是一种遗传性遗传疾病，导致无法代谢必需 氨基酸苯丙氨酸（PHE）。不受控制的血液的后果包括智力残疾， 癫痫发作，皮肤疾病，震颤，多动症，脑电图异常，行为问题，执行功能障碍， 和精神疾病。 PKU影响24,000人中约1人，估计有450,000个人 全世界。在美国，PKU每10,000名新生儿中有1个发生。建议使用PKU患者 在2-6 mg/dL（121-363 µmol/L）中保持血液PHE水平。这需要专业饮食的结合， 药物和诊所就诊。对于患者管理血液PHE水平是一个重大挑战 由于缺乏对血液水平的实时反馈。 I阶段I SBIR应用程序的目的是开发 并证明了围绕一个远程监视平台的PKU管理的可行性 现有护理点（POC）设备。现在的PKU连接将完成用于测量的POC仪表 血液phe浓度，一个配对的移动应用程序，用于显示结果和跟踪PHE摄入量以及互动式 网络仪表板与专家，营养师或医疗保健提供者连通性。具体目的 应用程序是：1）最终确定PKU现在移动应用程序，2）设计并将Web仪表板与移动应用程序集成在一起， 3）用户体验和平台可用性测试。现有的POC仪表（以前的II期奖项，项目 授予R44GM126593）和原型移动应用程序将用作基本模板。在第一阶段，用户友好 移动应用程序将经过设计和测试，以通过POC计跟踪PHE摄入量和血液PHE水平。接下来， 用于存储，显示和转换数据的数据库和Web仪表板将被设计，测试以及 实施到云服务器。最后，将要求招募的受试者使用现在与现在的PKU进行评估 平台的用户体验和可用性。芝加哥儿童医院的专家意见 苯丙氨酸家庭和研究人员探索证据（Phefree）财团和国家PKU 将获得联盟（NPKUA）。在第二阶段，与波士顿儿童医院合作的临床研究 和匹兹堡大学医学中心将完成，以验证PKU现已连接的可行性 在PKU患者的临床环境中。数据库将扩展到包括安全的患者信息， 扩大了对药物和症状的跟踪，并直接与医疗保健提供者进行沟通。如果是 平台成功，FDA指导“设备软件功能的上市上市的内容”发出了 2021年11月4日，以及9月27日发布的“移动和医疗应用程序设备软件功能的政策”， 2019年将遵循510 K提交的遵循。现在的PKU连接将对 PKU患者及其护理人员。