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Completed

NCT Number: NCT04281537

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

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.

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Key information

Conditions

Fabry Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses Vascular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Instituto de Genética e Erros Inatos do Metabolismo (IGEIM), São Paulo, Brazil

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Who can participate

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Enzyme replacement therapy (ERT)

Drug

ERT infusion every other week

Other names: agalsidase alpha, agalsidase beta

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

    Time frame: up to 7 weeks

    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

Secondary outcomes

  1. 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).

    Time frame: up to 7 weeks

    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).

  2. Total Patient Time Associated With Attendance for the Administration of a Single Dose of ERT (With Agalsidase Alfa or Agalsidase Beta).

    Time frame: up to 7 weeks

    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.

  3. Total Costs Associated With Attendance for the Administration of a Single Dose of ERT (With Agalsidase Alfa or Agalsidase Beta) - Brazil.

    Time frame: up to 7 weeks

    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.

  4. Total Costs Associated With Attendance for the Administration of a Single Dose of ERT (With Agalsidase Alfa or Agalsidase Beta) - Taiwan.

    Time frame: up to 7 weeks

    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.

  5. Total Costs Associated With Attendance for the Administration of a Single Dose of ERT (With Agalsidase Alfa or Agalsidase Beta) - Japan.

    Time frame: up to 7 weeks

    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.

  6. Total Costs Associated With Attendance for the Administration of a Single Dose of ERT (With Agalsidase Alfa or Agalsidase Beta) - Turkey

    Time frame: up to 7 weeks

    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.

  7. Percentage of Patients With Work Absence Due to Attendance for This ERT Episode.

    Time frame: up to 7 weeks

    The percentage of patients known to have taken time off from work during their ERT episode

  8. Number of Hours of Patient Work Absence Due to Attendance for ERT Episode.

    Time frame: up to 7 weeks

    The number of paid and unpaid hours that patients were absent from work during their ERT episode

  9. Total Caregiver Time Associated With Accompanying a Patient With Fabry Disease for the Administration of a Single Dose of ERT

    Time frame: up to 7 weeks

    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).

  10. Total Costs Associated With Accompanying a Patient With Fabry Disease for the Administration of a Single Dose of ERT

    Time frame: up to 7 weeks

    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).

  11. Percentage of Caregivers With Work Absence Due to Accompanying the Patient for ERT Administration.

    Time frame: up to 7 weeks

    Percentage of caregivers with work absence due to accompanying the patient for this episode of ERT administration.

  12. Number of Hours of Caregivers Work Absence Due to Accompanying the Patient for ERT Administration.

    Time frame: up to 7 weeks

    Number of hours of caregivers work absence due to accompanying the patient for this ERT administration episode.

  13. Health Related Quality of Life (HRQoL) (12 Item Short Form Survey [SF-12] Scores / Responses)

    Time frame: HRQoL was completed once (during the ERT infusion visit) prior to leaving the clinic

    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.

  14. Patients General Wellbeing Measured by World Health Organization-5 Wellbeing Index (WHO-5) Scores / Responses During ERT Infusion Visit

    Time frame: WHO-5 was completed once (during the ERT infusion visit) prior to leaving the clinic

    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.

  15. Patients Level of Fatigue Measured by Fatigue Likert Scale

    Time frame: 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

    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.

  16. Patients Levels of Work Impairment (Work Productivity and Activity Index [WPAI] Scores) - 1 to 7 Days After ERT Infusion

    Time frame: WPAI completed once by patients during the period of 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.

  17. Patients Levels of Work Impairment (Work Productivity and Activity Index [WPAI] Scores) - Day of Next ERT Infusion

    Time frame: WPAI completed once by patients on the day of the next ERT infusion (approximately 15 days after the prior 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.

  18. Caregiver's Levels of Work Impairment (Work Productivity and Activity Index [WPAI]-CG Scores) - 1 to 7 Days After ERT Infusion.

    Time frame: WPAI-CG completed once by caregivers during the period of 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.

  19. Caregiver's Levels of Work Impairment (Work Productivity and Activity Index [WPAI]-CG Scores) - Day of Next ERT Infusion.

    Time frame: WPAI-CG completed once by caregivers on day of the next ERT infusion (approximately 15 days after prior 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.

  20. Level of Strain in Providing Care for a Patient With Fabry Disease (Caregiver Strain Index [CSI] Scores / Responses).

    Time frame: up to 7 weeks

    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.

Sponsors and collaborators

Lead sponsor

Amicus Therapeutics

Industry

Registry information

Official study title

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

Important dates

Study start
2020
Primary completion
2022
Study completion
2022
First posted
Feb 24, 2020
Registry last updated
Feb 5, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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