A Real-world Wearables Study in Fabry Disease.

Trial assessments:

Baseline questionnaires

Baseline questionnaires will include the Hospital Anxiety and Depression Scale (HADS) and the EuroQol 5-dimension questionnaire (EQ-5D-5L). This will be administered via Qualtrics.

Thigh-worn device (activPAL)

Participants will attach the activPAL device to their anterior thigh for 8 days and continue their usual daily behaviour throughout the week. This will measure sitting, standing, stepping and sleep time. This device is accompanied by a hard copy daily diary, where participants will be asked to input the time they wake up, they get out of bed, they get into bed, and when they go to sleep.

Clinical data

Data from medical records will include disease phenotype and clinical severity including mutation type, lyso-Gb3, left ventricular mass index and diastolic dysfunction. Such data will be sourced from electronic patient records. Mainz Severity Score Index, and its age-adjusted score will be calculated from data on electronic patient records. These will be collected retrospectively from the previous 12 months upon enrolment.

Inclusion criteria

• Diagnosis of Fabry disease documented by genotyping and/or enzymatic analysis.
• Resident in the UK.
• Aged 18 years and over.
• Capable of providing informed consent.
• Physically able to stand and ambulate independently.

Exclusion criteria

• A known allergy to any materials in the wearable device.
• Not able to have or use a wearable.
• Taking part in an interventional study which would preclude real-world data collection.
• Unable to communicate in English to a sufficient level to permit engagement in the study.