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 will comprise a prospective time and motion evaluation and a cross-sectional evaluation of patient and caregiver-reported outcomes. The study will evaluate the time associated with the preparation and administration of a single dose of 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 will also evaluate the patients' quality of life wellbeing, fatigue and work productivity.

Study Overview

• Status: Completed
• Conditions: Fabry Disease
• Intervention / Treatment: Drug: Agalsidase Alpha; Drug: Agalsidase Beta

• Study Type: Observational
• Enrollment (Actual): 76

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
    • National Taiwan University
  • Taipei City, Taiwan
    • Taipei Veterans General Hospital
• Turkey
  • Ankara, Turkey
    • Gazi University Hospital
  • İzmir, Turkey
    • Dokuz Eylul University Medical Faculty
  • İzmir, Turkey
    • 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 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 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

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patient with Fabry Disease on ERT (agalsidase alfa); Patients with Fabry Disease receiving Enzyme Replacement Therapy (agalsidase alfa)	Drug: Agalsidase Alpha; Enzyme Replacement Therapy - Infusion every other week
Patient with Fabry Disease on ERT (agalsidase beta); Patients with Fabry Disease receiving Enzyme Replacement Therapy (agalsidase beta)	Drug: Agalsidase Beta; Enzyme Replacement Therapy - Infusion every other week
Caregiver; Caregiver of patient with Fabry Disease on ERT

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Total time spent by HCPs in the preparation and administration of a single dose of ERT in patients with FD; stratified by country and by ERT product (agalsidase alfa or agalsidase beta).	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).		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).		up to 7 weeks
Total costs associated with attendance for the administration of a single dose of ERT (with agalsidase alfa or agalsidase beta).		up to 7 weeks
Proportion of patients with work absence due to attendance for this ERT episode.		up to 7 weeks
Number of hours of patient work absence due to attendance for this ERT episode.		up to 7 weeks
Total caregiver time associated with accompanying a patient with FD 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 FD for the administration of a single dose of ERT (with agalsidase alfa or agalsidase beta).		up to 7 weeks
Proportion of caregivers with work absence due to accompanying the patient for this ERT episode.		up to 7 weeks
Number of hours of caregivers work absence due to accompanying the patient for this ERT episode.		up to 7 weeks
HRQoL (SF-12 scores / responses)	Health Related Quality of Life measured by the 12 Item Short Form Survey [SF-12]). SF-12v2 component summary measure and health domain scale is described in terms of scale or item composition, number of score levels, lowest and highest possible T scores for the standard and acute forms, and the health states associated with the lowest and highest observable scores. These descriptions are based on the general content of the scales and measures and the pattern of responses necessary to achieve these extreme scores. This information can be used to summarize what each component summary measure and health domain scale measures and can serve as a basis for broad-level interpretation of SF-12v2 results. These 8 domains form 2 subscales: physical component summary and mental component summary. The low scores indicate limitations in the domain measured. The high scores indicate less limitations in the domain measured.	up to 7 weeks
Patients General wellbeing measured by WHO-5 scores / responses)	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. The raw score is calculated by totaling the figures of the five answers. The raw score ranges from 0 to 25, 0 representing worst possible and 25 representing best possible quality of life.	up to 7 weeks
Patients Level of fatigue measured by Fatigue Likert scale)	Questionnaire measuring Fatigue. The range is from 1-5. 1 not at all tired, 5 extremely tired	up to 7 weeks
Patients Levels of work impairment (WPAI scores / responses)	Work Productivity and Activity Index. The WPAI consists of 6 items and ranges from 0-100%. WPAI outcomes are expressed as impairment percentages, with higher numbers indicating greater impairment and less productivity, i.e., worse outcomes.	up to 7 weeks
Caregiver's Levels of work impairment (WPAI-CG scores / responses).	Work Productivity and Activity Index. The WPAI consists of 6 items and ranges from 0-100%. WPAI outcomes are expressed as impairment percentages, with higher numbers indicating greater impairment and less productivity, i.e., worse outcomes.	up to 7 weeks
Level of strain in providing care for a patient with FD (CSI scores / responses).	Caregiver Strain index. The CSI consists of 13 items and measures the strain of care provision in five domains (financial, physical, psychological, social and personal). The range is from 0-13 and any positive answer may indicate a need for intervention in that area. A score of 7 or higher indicates a high level of stress.	up to 7 weeks

Collaborators and Investigators

• Sponsor: Amicus Therapeutics

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): April 28, 2023
• Last Update Submitted That Met QC Criteria: April 26, 2023
• Last Verified: April 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Metabolic Diseases; Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Cerebral Small Vessel Diseases; Lipidoses; Lipid Metabolism, Inborn Errors; Fabry Disease
• 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