NCT04281537

Brief Summary

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.

Trial Health

93
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
82

participants targeted

Target at P50-P75 for all trials

Timeline
Completed

Started Mar 2020

Typical duration for all trials

Geographic Reach
5 countries

9 active sites

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

February 7, 2020

Completed
17 days until next milestone

First Posted

Study publicly available on registry

February 24, 2020

Completed
6 days until next milestone

Study Start

First participant enrolled

March 1, 2020

Completed
2.2 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 18, 2022

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

May 18, 2022

Completed
2.5 years until next milestone

Results Posted

Study results publicly available

November 4, 2024

Completed
Last Updated

February 5, 2026

Status Verified

January 1, 2026

Enrollment Period

2.2 years

First QC Date

February 7, 2020

Results QC Date

May 16, 2023

Last Update Submit

January 19, 2026

Conditions

Fabry Disease

Outcome Measures

Primary Outcomes (1)

  • 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 Outcomes (20)

  • 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) - Brazil.

    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.

    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.

    up to 7 weeks

  • +15 more secondary outcomes

Study Arms (2)

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)

Caregiver

Caregiver of patient with Fabry Disease on Enzyme Replacement Therapy (ERT)

Interventions

Enzyme Replacement Therapy (ERT)DRUG

ERT infusion every other week

Also known as: agalsidase alpha, agalsidase beta
Patient with Fabry Disease on Enzyme Replacement Therapy (ERT)

Eligibility Criteria

Age18 Years+
Sexall
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-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).

You may qualify if:

  • 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.

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (9)

Amicus Therapeutics, Inc.

Philadelphia, Pennsylvania, 19104, United States

Location

Instituto de Genética e Erros Inatos do Metabolismo (IGEIM)

São Paulo, Brazil

Location

Keio University Hospital

Tokyo, Japan

Location

Yokohama Municipal Citizen's Hospital

Yokohama, Japan

Location

National Taiwan University

Taipei, Taiwan

Location

Taipei Veterans General Hospital

Taipei, Taiwan

Location

Gazi University Hospital

Ankara, Turkey (Türkiye)

Location

Dokuz Eylul University Medical Faculty

Izmir, Turkey (Türkiye)

Location

Ege University Hospital

Izmir, Turkey (Türkiye)

Location

Related Publications (1)

  • 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.

    PMID: 40790487DERIVED

MeSH Terms

Conditions

Fabry Disease

Interventions

Enzyme Replacement Therapyalpha-Galactosidaseagalsidase beta

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesCerebral Small Vessel DiseasesCerebrovascular DisordersVascular DiseasesCardiovascular DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolism, Inborn ErrorsLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

Enzyme TherapyDrug TherapyTherapeuticsGalactosidasesGlycoside HydrolasesHydrolasesEnzymesEnzymes and Coenzymes

Results Point of Contact

Title
Patient Advocacy
Organization
Amicus Therapeutics, Inc.
patientadvocacy@amicusrx.com
001 6096622000

Publication Agreements

PI is Sponsor Employee
No
Restrictive Agreement
No

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
CROSS SECTIONAL
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

February 7, 2020

First Posted

February 24, 2020

Study Start

March 1, 2020

Primary Completion

May 18, 2022

Study Completion

May 18, 2022

Last Updated

February 5, 2026

Results First Posted

November 4, 2024

Record last verified: 2026-01

Locations

JP(2)TW(2)TU(3)US(1)BR(1)