Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease

Abstract

Background: Fabry disease is a rare inherited disorder resulting from deficient α-galactosidase A enzyme activity. Common disease manifestations are sweating abnormalities, neuropathic pain, gastrointestinal symptoms and fatigue. Challenges are faced by health care professionals in evaluating symptom burden in the current clinical setting, and the demand for alternative methods for monitoring disease-specific symptoms has seen an acceleration in recent years. Smartphone technologies offer the potential for continuity of care and surveillance. As a part of a quality improvement project, a disease specific app was developed in collaboration with a software company (Health Touch Ltd) and made available for patient use in May 2018. The Fabry mobile app records five categories: pain, gastrointestinal symptoms, sweating, activity levels, medications. Fabry disease patients with gastrointestinal and pain symptoms attending the Lysosomal Storage Disorders Unit of the Royal Free London NHS Foundation Trust were reviewed to assess eligibility and invited to download the app for recording their symptoms (activity, sweating, pain and gastrointestinal) and medications. Patient-generated data were transmitted to a secure website for clinicians to review.

Results: One-hundred and thirty-nine symptomatic Fabry disease patients who had a smartphone (iPhone or android) were invited to download the app. Sixty-seven patients (26 males and 41 females; median age, 49 years [range, 20-81]) downloaded and tracked the Fabry App at least once. The median frequency of use per patient was 6 (range, 1-629). Pain in the hands and abdominal pain were significantly higher (p = 0.009 and p = 0.007, respectively) in patients with classic phenotype compared with patients with non-classic phenotypes.

Conclusions: We demonstrated the feasibility and acceptability of a smartphone app to facilitate the remote assessment and monitoring of Fabry disease symptom burden on a daily/weekly basis, as an alternative to the current standard of care that requires patients to recall their symptoms during 6 to 12 monthly annual clinic visits. Patients who were more likely to use the app had greater disease burden. This innovation has the potential to assess disease progression, early therapeutic intervention, thereby decreasing the burden of morbidity and mortality among Fabry patients, and to record long-term effects of Fabry-specific therapies.

Keywords: Disease management; Disease monitoring; Fabry disease; Patient reported data; Smartphone applications.

Fig. 1

Fabry App development process. The figure summarises the development process and design of the Fabry App

Fig. 2

Overview of the Fabry App. The figure shows the app launch screen with options to enter data into ‘Trackers’, read/write ‘Messages’, read ‘Medications’, enter ‘Patient Passport’ information and adjust ‘Settings’. Via ‘Trackers’ the patient can choose from a category of symptoms (activity, gastrointestinal, pain, sweating). The patient is asked to enter tracker information on a weekly basis. He/she is also asked to complete and submit a Quality of Life form every month via the app

Fig. 3

Clinician portal. Patient information is transmitted electronically to the secure website for clinicians to review patients home monitoring data. The clinician can see the tracker information, monthly Quality of Life form and messages via website. Thresholds can be set, tracking reminders sent and medications entered. Data can be seen in graphical format as well as exported in a table format for analysis