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 苯丙酮尿症 (PKU) 是一种遗传性疾病，导致无法代谢必需的物质 氨基酸苯丙氨酸 (Phe) 不受控制的血液 Phe 的后果包括智力障碍、 癫痫、皮肤病、震颤、多动、脑电图异常、行为问题、执行功能障碍、 PKU 影响大约 24,000 人中的 1 人，估计有 450,000 人。 在美国，每 10,000 名新生儿中就有 1 人患有 PKU。 将血液 Phe 水平维持在 2-6 mg/dL (121-363 µmol/L) 范围内，这需要结合专门的饮食， 管理血液 Phe 水平对患者来说是一个重大挑战。 由于缺乏血液 Phe 水平的实时反馈，该 I 期 SBIR 应用的目的是开发。 论证了以北大管理为中心的远程监控平台的可行性 PKU Now-Connect 将由一个用于测量的 POC 仪表组成。 血液 Phe 浓度、用于显示结果和跟踪 Phe 摄入量的配对移动应用程序以及交互式 与专家、营养师或医疗保健提供者连接的网络仪表板为此的具体目标。 应用程序包括：1) 完成 PKU Now 移动应用程序，2) 设计 Web 仪表板并将其与移动应用程序集成， 3) 用户体验和平台可用性测试现有的 POC 仪表（之前的第二阶段奖项，项目）。 Grant R44GM126593）和原型移动应用程序将用作第一阶段的基本模板，一个用户友好的。 移动应用程序将被设计和测试，用于通过 POC 仪表跟踪 Phe 摄入量和血液 Phe 水平。 用于存储、显示和转换数据的数据库和 Web 仪表板将被设计、测试和 最后，招募的受试者将被要求使用 PKU Now-Connect 进行评估。 该平台的用户体验和可用性来自芝加哥儿童医院的专家意见。 苯丙氨酸家族和研究人员探索证据 (PHEFREE) 联盟和国家 PKU 联盟（NPKUA）将在第二阶段与波士顿儿童医院合作进行临床研究。 匹兹堡大学医学中心即将竣工，验证北大Now-Connect的可行性 在 PKU 患者的临床环境中，数据库将得到扩展，以包含安全的患者信息， 扩大对药物和症状的跟踪，并与医疗保健提供者直接沟通。 平台成功，FDA指南《设备软件功能上市前提交内容》发布 2021年11月4日，以及9月27日发布的《移动和医疗应用设备软件功能政策》， 2019 年，PKU Now-Connect 的提交将产生重大的积极影响。 PKU 患者及其护理人员。