A Real-world Wearables Study in Fabry Disease.

A Real-world Monitoring Project Exploring Day-to-day Physical Activity, Sleep, and Quality of Life in Individuals With Fabry Disease.

Despite improvements in Fabry disease care in recent years, many patients still have poor outcomes. In addition to the many physical symptoms that patients can experience, the disease also places individuals at an increased risk of mental health conditions, such as anxiety and depression. Low physical activity levels and increased sedentary time are detrimentally associated with anxiety, depression and quality of life in the general population. Currently, no such research has been conducted in individuals with Fabry disease.

Data will consist of: (1) information from hospital medical records, (2) patient reported outcomes collected via questionnaires, and (3) measurements from a clinical-grade wearable device.

Individuals with Fabry disease aged 18 years or above will be considered for eligibility screening.

Study Overview

• Status: Completed
• Conditions: Fabry Disease
• Intervention / Treatment: Other: Wearable technology monitoring

Detailed Description

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.

• Study Type: Observational
• Enrollment (Actual): 100

Contacts and Locations

Study Locations

• United Kingdom
  • London, United Kingdom
    • Royal Free London NHS Foundation Trust

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Adults with Fabry disease who meet the eligibility criteria.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Adults with Fabry disease	Other: Wearable technology monitoring; Observational study (no intervention delivered)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Quality of life - via EuroQol five-dimension questionnaire (EQ-5D-5L).	Quality of life measured using the self-report EuroQol five-dimension questionnaire (EQ-5D-5L). The questionnaire is comprised of five dimensions which are each divided into five levels of severity i.e. 1 = no problem, 2 = slight problems, 3 = moderate problems, 4 = severe problems, and 5 = unable to/extreme problems. A five-digit health state score is then found by combining the levels of severity for each dimension i.e. 11111 is the best health state and 55555 is the worst health state.	Baseline

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Anxiety	Anxiety measured using the self-report Hospital Anxiety and Depression Scale (HADS) questionnaire. HADS has 14 questions which measure anxiety (7 questions) and depression (7 questions). Each question is scored from 0 to 3 and total scores for anxiety (out of 21) and depression (out of 21) are calculated. Scoring is as follows: 0 - 7 = normal, 8 - 10 = borderline abnormal and 11 - 21 = abnormal.	Baseline
Depression	Depression measured using the self-report Hospital Anxiety and Depression Scale (HADS) questionnaire. HADS has 14 questions which measure anxiety (7 questions) and depression (7 questions). Each question is scored from 0 to 3 and total scores for anxiety (out of 21) and depression (out of 21) are calculated. Scoring is as follows: 0 - 7 = normal, 8 - 10 = borderline abnormal and 11 - 21 = abnormal.	Baseline

Collaborators and Investigators

• Sponsor: Royal Free Hospital NHS Foundation Trust
• Collaborators: Brunel University

Study record dates

Study Major Dates

• Study Start (Actual): November 5, 2024
• Primary Completion (Actual): May 29, 2025
• Study Completion (Actual): May 29, 2025

Study Registration Dates

• First Submitted: June 12, 2024
• First Submitted That Met QC Criteria: June 25, 2024
• First Posted (Actual): July 3, 2024

Study Record Updates

• Last Update Posted (Actual): March 16, 2026
• Last Update Submitted That Met QC Criteria: March 12, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Metabolic Diseases; Lipid Metabolism Disorders; Genetic Diseases, X-Linked; Lysosomal Storage Diseases; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Sphingolipidoses; Lipidoses; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Fabry Disease
• Other Study ID Numbers: 320134

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No