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

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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.