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

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.

An investigation into the accuracy of follow-on GPRS/mobile data CDRs.

This study investigated the accuracy of 3G and 4G follow-on GPRS (General Packet Radio Service)/mobile data CDRs (Call Detail Records) from three UK mobile network operators (EE, Vodafone and Three). Follow-on GPRS/mobile data CDRs are currently considered to be more open to misinterpretation than voice/SMS CDRs as uncertainties exist regarding the correspondence between the timestamp and the Cell ID presented within the CDRs. Consequently, follow-on GPRS/mobile CDRs may be disregarded during criminal investigations, potentially losing valuable intelligence and evidence. To assess the accuracy of follow-on GPRS/mobile data CDRs, connected mode RF (Radio Frequency) surveys were conducted while simultaneously producing follow-on GPRS/mobile data CDRs in a travelling vehicle. This allowed a comparison of the start Cell ID presented in the CDR and the Cell ID that provided coverage to the device at the start time of the CDR to assess the correspondence between the timestamp and the Cell ID presented within the CDRs, and to consider the validity of the terminology used by experts. It was found that individual follow-on GPRS/mobile data CDRs cannot consistently place a device within the coverage area of the start Cell ID at the start time of the CDR. Instead, the results indicate that a terminology which places the device within the coverage area of the start Cell ID 'at or before' the start time of the CDR is appropriate. It is crucial that follow-on GPRS/mobile data CDRs are analysed with this consideration in mind so to interpret the evidence correctly.