A preliminary study of telemedicine for patients with hepatic glycogen storage disease and their healthcare providers: from bedside to home site monitoring

Research output: Contribution to journalArticle


Background: The purpose of this project was to develop a telemedicine platform that supports home site monitoring and integrates biochemical, physiological, and dietary parameters for individual patients with hepatic glycogen storage disease (GSD). Methods and results: The GSD communication platform (GCP) was designed with input from software developers, GSD patients, researchers, and healthcare providers. In phase 1, prototyping and software design of the GCP has occurred. The GCP was composed of a GSD App for patients and a GSD clinical dashboard for healthcare providers. In phase 2, the GCP was tested by retrospective patient data entry. The following software functionalities were included (a) dietary registration and prescription module, (b) emergency protocol module, and (c) data import functions for continuous glucose monitor devices and activity wearables. In phase 3, the GSD App was implemented in a pilot study of eight patients with GSD Ia (n = 3), GSD IIIa (n = 1), and GSD IX (n = 4). Usability was measured by the system usability scale (SUS). The mean SUS score was 64/100 [range: 38–93]. Conclusions: This report describes the design, development, and validation process of a telemedicine platform for patients with hepatic GSD. The GCP can facilitate home site monitoring and data exchange between patients with hepatic GSD and healthcare providers under varying circumstances. In the future, the GCP may support cross-border healthcare, second opinion processes and clinical trials, and could possibly also be adapted for other diseases for which a medical diet is the cornerstone.


  • Irene J. Hoogeveen
  • Fabian Peeks
  • Foekje de Boer
  • Charlotte M.A. Lubout
  • Tom J. de Koning
  • Sebastiaan te Boekhorst
  • Robert Jan Zandvoort
  • Rob Burghard
  • Francjan J. van Spronsen
  • Terry G.J. Derks
External organisations
  • University Medical Center Groningen
  • Patient Connect B.V.
  • Pi IQ
  • EnerGQcare BV
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Other Clinical Medicine


  • Dietary management, Hepatic glycogen storage diseases, Mobile application, Monitoring, Rare diseases, Telemedicine
Original languageEnglish
Pages (from-to)929-936
JournalJournal of Inherited Metabolic Disease
Issue number6
Publication statusPublished - 2018 Dec
Publication categoryResearch
Externally publishedYes