A Study to Describe the Experience of Both Patients and Their Clinicians in the Treatment of Fabry Disease With Enzyme Replacement Therapy.

A Multi-country Time and Motion Study to Describe the Experience of Clinicians, Patients and Their Caregivers During the Treatment of Fabry Disease With Enzyme Replacement Therapy With Agalsidase Alfa and Agalsidase Beta

This is an international, non-interventional research study of adult patients with Fabry Disease and their caregivers. The study comprised a prospective time and motion evaluation and a cross-sectional evaluation of patient and caregiver-reported outcomes. The study evaluated the time associated with the preparation and administration of a single dose of enzyme replacement therapy (ERT) in patients by health care providers as well as the impact on Fabry patients and caregivers time and costs associated with an ERT treatment. The study also evaluated the patients' quality of life wellbeing, fatigue and work productivity.

Study Overview

• Status: Completed
• Conditions: Fabry Disease
• Intervention / Treatment: Drug: Enzyme Replacement Therapy (ERT)

• Study Type: Observational
• Enrollment (Actual): 82

Contacts and Locations

Study Locations

• Brazil
  • São Paulo, Brazil
    • Instituto de Genética e Erros Inatos do Metabolismo (IGEIM)
• Japan
  • Tokyo, Japan
    • Keio University Hospital
  • Yokohama, Japan
    • Yokohama Municipal Citizen's Hospital
• Taiwan
  • Taipei, Taiwan
    • Taipei Veterans General Hospital
  • Taipei, Taiwan
    • National Taiwan University
• Turkey (Türkiye)
  • Ankara, Turkey (Türkiye)
    • Gazi University Hospital
  • Izmir, Turkey (Türkiye)
    • Dokuz Eylul University Medical Faculty
  • Izmir, Turkey (Türkiye)
    • Ege University Hospital
• United States
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Amicus Therapeutics, Inc.

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: N/A

• Sampling Method: Non-Probability Sample

Study Population

Patients with FD who are receiving ERT and their caregivers will be identified and recruited from approximately 12 specialist centres in four countries (Taiwan, Turkey, Brazil and Japan).

Description

Patient Inclusion Criteria:

• Patients with a documented diagnosis of Fabry Disease (FD)
• Patients who have received ≥4 doses of ERT (with agalsidase alfa or agalsidase beta) for the treatment of FD.
• Patients who present to the participating hospital(s) or treatment centre(s) for administration of a dose of ERT (as part of their routine treatment) during the data collection period.

Caregiver Inclusion Criteria:

-Self-identifies as a caregiver of a patient with FD for whom written informed consent has been obtained for inclusion in the study.

Patient Exclusion Criteria:

• Patients who are unable or unwilling to give consent for study participation.
• Patients whose ERT preparation and administration takes place exclusively in the home setting with no healthcare professional (HCP) involvement in preparation of the infusion.
• For the time and motion evaluation: Patients whose ERT is administered by a HCP who does not consent to be observed.

Caregiver Exclusion Criteria:

- Caregiver (and/or the patient with FD whom they support or care for) is unable or unwilling to give consent for study participation.

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Cross-Sectional

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patient with Fabry Disease on Enzyme Replacement Therapy (ERT); Patients with Fabry Disease receiving Enzyme Replacement Therapy (agalsidase alfa or agalsidase beta)	Drug: Enzyme Replacement Therapy (ERT); ERT infusion every other week; Other Names: agalsidase beta; agalsidase alpha
Caregiver; Caregiver of patient with Fabry Disease on Enzyme Replacement Therapy (ERT)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Total Time Spent by Healthcare Professionals (HCPs) in the Preparation/Administration of a Single Dose of ERT in Patients With Fabry Disease	Total time (minutes) spent by HCPs on all activities related to administration of a single dose of ERT in patients with Fabry Disease including pre-infusion (pre-administration patient consultation; infusion and premedication preparation), ERT (and premedication) administration, and post-administration assessment and documentation. Results are shown for all patients with Fabry Disease on ERT in study	up to 7 weeks

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Total Time Spent by HCPs on Each Separate Task Associated With the Preparation and Administration of a Single Dose of ERT (With Agalsidase Alfa or Agalsidase Beta).	Total time spent (in minutes) by healthcare professionals (HCP) on tasks associated with preparation and administration of a single dose of ERT (with agalsidase alfa or agalsidase beta) in patients with Fabry Disease including pre-administration activities (patient consultation, infusion/pre-medication preparation activities), administration of ERT (and pre-medications), and post-infusion activities (monitoring of patient during and after administration, completion of clinical documentation, and any other ERT-administration related activities).	up to 7 weeks
Total Patient Time Associated With Attendance for the Administration of a Single Dose of ERT (With Agalsidase Alfa or Agalsidase Beta).	Total patient time associated with attendance for administration of a single dose of ERT includes the total time from when the patient left home, to when they returned home and based on the reported time spent travelling, total waiting time, the total time spent during infusion episode (pre, during and post) and the other recorded activities.	up to 7 weeks
Total Costs Associated With Attendance for the Administration of a Single Dose of ERT (With Agalsidase Alfa or Agalsidase Beta) - Brazil.	Total out-of-pocket costs (eg, food, travel, internet) incurred by patients in Brazil that were directly related to attendance for the administration of a single dose of ERT.	up to 7 weeks
Total Costs Associated With Attendance for the Administration of a Single Dose of ERT (With Agalsidase Alfa or Agalsidase Beta) - Taiwan.	Total out-of-pocket costs (eg, food, travel, internet) incurred by patients in Taiwan that were directly related to attendance for the administration of a single dose of ERT.	up to 7 weeks
Total Costs Associated With Attendance for the Administration of a Single Dose of ERT (With Agalsidase Alfa or Agalsidase Beta) - Japan.	Total out-of-pocket costs (eg, food, travel, internet) incurred by patients in Japan that were directly related to attendance for the administration of a single dose of ERT.	up to 7 weeks
Total Costs Associated With Attendance for the Administration of a Single Dose of ERT (With Agalsidase Alfa or Agalsidase Beta) - Turkey	Total out-of-pocket costs (eg, food, travel, internet) incurred by patients in Turkey that were directly related to attendance for the administration of a single dose of ERT.	up to 7 weeks
Percentage of Patients With Work Absence Due to Attendance for This ERT Episode.	The percentage of patients known to have taken time off from work during their ERT episode	up to 7 weeks
Number of Hours of Patient Work Absence Due to Attendance for ERT Episode.	The number of paid and unpaid hours that patients were absent from work during their ERT episode	up to 7 weeks
Total Caregiver Time Associated With Accompanying a Patient With Fabry Disease for the Administration of a Single Dose of ERT	Total caregiver time (in minutes) associated with accompanying a patient with Fabry Disease for the administration of a single dose of ERT (with agalsidase alfa or agalsidase beta).	up to 7 weeks
Total Costs Associated With Accompanying a Patient With Fabry Disease for the Administration of a Single Dose of ERT	Total costs associated with accompanying a patient with Fabry Disease for the administration of a single dose of ERT (with agalsidase alfa or agalsidase beta).	up to 7 weeks
Percentage of Caregivers With Work Absence Due to Accompanying the Patient for ERT Administration.	Percentage of caregivers with work absence due to accompanying the patient for this episode of ERT administration.	up to 7 weeks
Number of Hours of Caregivers Work Absence Due to Accompanying the Patient for ERT Administration.	Number of hours of caregivers work absence due to accompanying the patient for this ERT administration episode.	up to 7 weeks
Health Related Quality of Life (HRQoL) (12 Item Short Form Survey [SF-12] Scores / Responses)	Health Related Quality of Life (HRQoL) measured by the 12 Item Short Form Survey [SF-12]). In the SF-12, patients were asked to rate aspects of their health across 8 domains; all domains have a maximum value of 5 (range 0-5) except physical functioning, for which the maximum score is 3 (range 0-3). Higher scores indicate better HRQoL while low scores indicate worse HRQoL.	HRQoL was completed once (during the ERT infusion visit) prior to leaving the clinic
Patients General Wellbeing Measured by World Health Organization-5 Wellbeing Index (WHO-5) Scores / Responses During ERT Infusion Visit	World Health Organization-5 Wellbeing Index [WHO-5] consists of 5 items and the timeframe for responses is based on the previous 2 weeks. The 5 items relate to feeling cheerful, calm, active, rested and being interested in life. For each question, patients rated the extent to which the statement applies between 0 (none of the time) and 5 (all of the time), with higher scores indicating better wellbeing. The WHO-5 total score is calculated by totaling the values of each of the five questions. The total scores range from 0 to 25, where 0 represents the worst possible quality of life and 25 represents the best possible quality of life.	WHO-5 was completed once (during the ERT infusion visit) prior to leaving the clinic
Patients Level of Fatigue Measured by Fatigue Likert Scale	Questionnaire measuring Fatigue. Possible scores range from 1 (not at all tired) to 5 (extremely tired); higher scores therefore indicating worse fatigue. Negative value in change from during ERT infusion to evening of ERT infusion indicates more fatigue in the evening of infusion. Negative value in change from baseline (during ERT infusion) to 1-7 days after ERT infusion indicates more fatigue during the period occurring 1-7 days after ERT infusion.	Questionnaire completed during ERT infusion (baseline), the same evening as date of ERT infusion, and once during the period of 1 to 7 days post-infusion
Patients Levels of Work Impairment (Work Productivity and Activity Index [WPAI] Scores) - 1 to 7 Days After ERT Infusion	Work Productivity and Activity Index (WPAI) consists of 6 items on the effect of health problems on ability to work and perform regular activities: 1=currently employed; 2=hours missed due to health problems; 3=hours missed other reasons; 4=hours actually worked; 5=degree health affected productivity while working; 6=degree health affected regular activities Score calculation (multiplied by 100 for percent): Percent work time missed due to health: Q2/(Q2+Q4); Percent impairment while working due to health: Q5/10; Percent overall work impairment due to health: Q2/(Q2+Q4) + [(1-(Q2/(Q2+Q4))) x (Q5/10)]; Percent activity impairment due to health: Q6/10 Final scores are expressed as impairment percentages (range: 0-100%), with higher numbers indicating greater impairment/less productivity (ie, worse outcomes) and lower numbers indicating less impairment/greater productivity (ie, better outcomes). Data were collected 1 to 7 days after ERT infusion.	WPAI completed once by patients during the period of 1 to 7 Days After ERT Infusion
Patients Levels of Work Impairment (Work Productivity and Activity Index [WPAI] Scores) - Day of Next ERT Infusion	Work Productivity and Activity Index (WPAI) consists of 6 items on the effect of health problems on ability to work and perform regular activities: 1=currently employed; 2=hours missed due to health problems; 3=hours missed other reasons; 4=hours actually worked; 5=degree health affected productivity while working; 6=degree health affected regular activities Score calculation (multiplied by 100 for percent): Percent work time missed due to health: Q2/(Q2+Q4); Percent impairment while working due to health: Q5/10; Percent overall work impairment due to health: Q2/(Q2+Q4) + [(1-(Q2/(Q2+Q4))) x (Q5/10)]; Percent activity impairment due to health: Q6/10 Final scores are expressed as impairment percentages (range: 0-100%), with higher numbers indicating greater impairment/less productivity (ie, worse outcomes) and lower numbers indicating less impairment/greater productivity (ie, better outcomes). Data were collected on day of next ERT infusion.	WPAI completed once by patients on the day of the next ERT infusion (approximately 15 days after the prior infusion)
Caregiver's Levels of Work Impairment (Work Productivity and Activity Index [WPAI]-CG Scores) - 1 to 7 Days After ERT Infusion.	Work Productivity and Activity Index (WPAI) consists of 6 items on the effect of health problems on ability to work and perform regular activities: 1=currently employed; 2=hours missed due to health problems; 3=hours missed other reasons; 4=hours actually worked; 5=degree health affected productivity while working; 6=degree health affected regular activities Score calculation (multiplied by 100 for percent): Percent work time missed due to health: Q2/(Q2+Q4); Percent impairment while working due to health: Q5/10; Percent overall work impairment due to health: Q2/(Q2+Q4) + [(1-(Q2/(Q2+Q4))) x (Q5/10)]; Percent activity impairment due to health: Q6/10 Final scores are expressed as impairment percentages (range: 0-100%), with higher numbers indicating greater impairment/less productivity (ie, worse outcomes) and lower numbers indicating less impairment/greater productivity (ie, better outcomes). Data were collected 1 to 7 days after ERT infusion.	WPAI-CG completed once by caregivers during the period of 1 to 7 days after ERT infusion
Caregiver's Levels of Work Impairment (Work Productivity and Activity Index [WPAI]-CG Scores) - Day of Next ERT Infusion.	Work Productivity and Activity Index (WPAI) consists of 6 items on the effect of health problems on ability to work and perform regular activities: 1=currently employed; 2=hours missed due to health problems; 3=hours missed other reasons; 4=hours actually worked; 5=degree health affected productivity while working; 6=degree health affected regular activities Score calculation (multiplied by 100 for percent): Percent work time missed due to health: Q2/(Q2+Q4); Percent impairment while working due to health: Q5/10; Percent overall work impairment due to health: Q2/(Q2+Q4) + [(1-(Q2/(Q2+Q4))) x (Q5/10)]; Percent activity impairment due to health: Q6/10 Final scores are expressed as impairment percentages (range: 0-100%), with higher numbers indicating greater impairment/less productivity (ie, worse outcomes) and lower numbers indicating less impairment/greater productivity (ie, better outcomes). WPAI was completed by caregiver on day of next ERT infusion.	WPAI-CG completed once by caregivers on day of the next ERT infusion (approximately 15 days after prior infusion)
Level of Strain in Providing Care for a Patient With Fabry Disease (Caregiver Strain Index [CSI] Scores / Responses).	The Caregiver Strain Index (CSI) consists of 12 questions with Yes/No answer and measures the strain of care provision in five domains (financial, physical, psychological, social and personal). Yes = 1 and No = 0. The range is from 0-12. Total scores are the sum of all responses. A score of 7 or higher indicates a high level of stress.	up to 7 weeks

Collaborators and Investigators

• Sponsor: Amicus Therapeutics

Publications and helpful links

General Publications

• Keyzor I, Martins AM, Ucar SK, Yamakawa H, Chien YH, Arslan N, Niu DM, Tumer L, Baldock L, Shohet S, Giuliano JD. A multi-country time and motion study to describe the experience and burden associated with the treatment of Fabry disease with enzyme replacement therapy with agalsidase alfa and agalsidase beta. Orphanet J Rare Dis. 2025 Aug 11;20(1):419. doi: 10.1186/s13023-025-03707-2.

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2020
• Primary Completion (Actual): May 18, 2022
• Study Completion (Actual): May 18, 2022

Study Registration Dates

• First Submitted: February 7, 2020
• First Submitted That Met QC Criteria: February 20, 2020
• First Posted (Actual): February 24, 2020

Study Record Updates

• Last Update Posted (Actual): February 5, 2026
• Last Update Submitted That Met QC Criteria: January 19, 2026
• Last Verified: January 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; Therapeutics; Drug Therapy; Glycoside Hydrolases; Hydrolases; Enzymes; Enzymes and Coenzymes; Galactosidases; Enzyme Therapy; agalsidase beta; Enzyme Replacement Therapy; alpha-Galactosidase
• Other Study ID Numbers: AT-NIS-0001

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No