Background
Gaucher disease is an inherited lysosomal storage disorder of which there are three subtypes.
- Type 1 disease has no neurological involvement and is treatable with enzyme replacement therapy.
- Type 2 disease results in infant death and
- Type 3 disease is a heterogenous disorder characterised by progressive neurological decline throughout childhood and adult life.
Endeavours to find a therapy to modify neurological disease are limited by a lack of meaningful clinical outcome measures which are acceptable to patients.
Results
We present results from a pilot study utilising wearable technology to monitor physical activity as a surrogate of disease activity/severity paired with a mobile phone app allowing patients to complete self-reported outcome measures in the real world as opposed to the hospital environment. We demonstrate feasibility of the approach and highlight areas for development with this study of 21 patients, both children and adults.
Conclusions
The paper illustrates, where patients engage in the methodology, a rich dataset is obtainable and useful for proactive clinical care and for clinical trial outcome development.