Fabry disease is a lysosomal storage disorder (inherited metabolic disorder). Despite the pharmacological treatments available to adults with Fabry disease, many individuals continue to experience debilitating symptoms in multiple organs, like heart enlargement, severe neuropathic pain, and progressive kidney impairment leading to renal failure. The physical symptoms associated with Fabry disease can have a profound negative impact on an individual’s mental health and quality of life. Therefore, the development of a non-pharmacological intervention could provide an effective addition to the current management of Fabry disease.
This PhD project aims to develop and evaluate a physical activity and sedentary behaviour intervention focused on enhancing mental health and quality of life in adults with Fabry disease.
- The first study will determine the association of physical activity and sedentary behaviour with mental health and quality of life in adults with Fabry disease. Participants will wear an activity monitor on their thigh for seven days, in addition to completing mental health and quality of life questionnaires.
- The second study involves co-designing a physical activity and sedentary behaviour intervention tailored to the needs of adults with Fabry disease. Focus groups are being conducted with adults with Fabry disease and individuals who support them (e.g. family members, friends, members of staff at the MPS Society). Additionally, healthcare professionals who have experience in supporting adults with Fabry disease will be interviewed. Once the focus groups and interviews are complete, we will conduct participatory workshops to develop and finalise the physical activity and sedentary behaviour intervention.
- The third study will be a mixed-methods randomised controlled trial. Adults with Fabry disease will be randomised into either the co-designed intervention group or the control group, for a duration of 3 months. The feasibility, safety and acceptability of the co-designed intervention will be explored.
If deemed feasible, safe, and acceptable, the intervention could be subsequently tested in a full-scale trial. If shown to be effective, this intervention could help adults with Fabry disease improve their physical activity levels, reduce their sedentary behaviour, and enhance mental health and quality of life.