A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease)

Orphanet J Rare Dis. 2020 Aug 3;15(1):199. doi: 10.1186/s13023-020-01473-x.

Abstract

Background: As part of a late onset GM2 gangliosidosis natural history study, digital health technology was utilized to monitor a group of patients remotely between hospital visits. This approach was explored as a means of capturing continuous data and moving away from focusing only on episodic data captured in traditional study designs. A strong emphasis was placed on real-time capture of symptoms and mobile Patient Reported Outcomes (mPROs) to identify the disease impact important to the patients themselves; an impact that may not always correlate with the measured clinical outcomes assessed during patient visits. This was supported by passive, continuous data capture from a wearable device.

Results: Adherence rate for wearing the device and completing the mPROs was 84 and 91%, respectively, resulting in a rich multidimensional dataset. As expected for a six-month proof-of-concept study in a disease that progresses slowly, statistically significant changes were not expected or observed in the clinical, mPROs, or wearable device data.

Conclusions: The study demonstrated that patients were very enthusiastic and motivated to engage with the technology as demonstrated by excellent compliance. The combination of mPROs and wearables generates feature-rich datasets that could be a useful and feasible way to capture remote, real-time insight into disease burden.

Keywords: Late onset GM2 gangliosidosis; Mobile health, lysosomal storage disease; Wearable technology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Feasibility Studies
  • Humans
  • Sandhoff Disease*
  • Tay-Sachs Disease*
  • Telemedicine*
  • Wearable Electronic Devices*