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

Completed

Conditions: Fabry Disease

Interventions: Drug: Enzyme Replacement Therapy (ERT)

Registration Number: NCT04281537

Lead Sponsor: Amicus Therapeutics

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.

Detailed Description: Not available

Recruitment & Eligibility

Status: COMPLETED

Sex: All

Target Recruitment: 82

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 & Design

Study Type: OBSERVATIONAL

Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Patient with Fabry Disease on Enzyme Replacement Therapy (ERT)	Enzyme Replacement Therapy (ERT)	Patients with Fabry Disease receiving Enzyme Replacement Therapy (agalsidase alfa or agalsidase beta)

Primary Outcome Measures

Name	Time	Method
Total Time Spent by Healthcare Professionals (HCPs) in the Preparation/Administration of a Single Dose of ERT in Patients With Fabry Disease	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 Outcome Measures

Name	Time	Method
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 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).
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 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.
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 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.
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 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.
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	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.
Total Costs Associated With Attendance for the Administration of a Single Dose of ERT (With Agalsidase Alfa or Agalsidase Beta) - Turkey	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.
Percentage of Patients With Work Absence Due to Attendance for This ERT Episode.	up to 7 weeks	The percentage of patients known to have taken time off from work during their ERT episode
Number of Hours of Patient Work Absence Due to Attendance for ERT Episode.	up to 7 weeks	The number of paid and unpaid hours that patients were absent from work during their ERT episode
Total Caregiver Time Associated With Accompanying a Patient With Fabry Disease for the Administration of a Single Dose of ERT	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).
Total Costs Associated With Accompanying a Patient With Fabry Disease for the Administration of a Single Dose of ERT	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).
Percentage of Caregivers With Work Absence Due to Accompanying the Patient for ERT Administration.	up to 7 weeks	Percentage of caregivers with work absence due to accompanying the patient for this episode of ERT administration.
Number of Hours of Caregivers Work Absence Due to Accompanying the Patient for ERT Administration.	up to 7 weeks	Number of hours of caregivers work absence due to accompanying the patient for this ERT administration episode.
Health Related Quality of Life (HRQoL) (12 Item Short Form Survey [SF-12] Scores / Responses)	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.
Patients General Wellbeing Measured by World Health Organization-5 Wellbeing Index (WHO-5) Scores / Responses During ERT Infusion Visit	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.
Patients Level of Fatigue Measured by Fatigue Likert Scale	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.
Patients Levels of Work Impairment (Work Productivity and Activity Index [WPAI] Scores) - 1 to 7 Days After ERT Infusion	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.
Patients Levels of Work Impairment (Work Productivity and Activity Index [WPAI] Scores) - 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)	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.
Caregiver's Levels of Work Impairment (Work Productivity and Activity Index [WPAI]-CG Scores) - 1 to 7 Days After ERT Infusion.	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.
Caregiver's Levels of Work Impairment (Work Productivity and Activity Index [WPAI]-CG Scores) - Day of Next ERT Infusion.	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.
Level of Strain in Providing Care for a Patient With Fabry Disease (Caregiver Strain Index [CSI] Scores / Responses).	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.

Trial Locations

Locations (9): Instituto de Genética e Erros Inatos do Metabolismo (IGEIM)
🇧🇷
São Paulo, Brazil
Amicus Therapeutics, Inc.
🇺🇸
Philadelphia, Pennsylvania, United States
National Taiwan University
🇨🇳
Taipei, Taiwan
Keio University Hospital
🇯🇵
Tokyo, Japan
Yokohama Municipal Citizen's Hospital
🇯🇵
Yokohama, Japan
Taipei Veterans General Hospital
🇨🇳
Taipei City, Taiwan
Gazi University Hospital
🇹🇷
Ankara, Turkey
Ege University Hospital
🇹🇷
İzmir, Turkey
Dokuz Eylul University Medical Faculty
🇹🇷
İzmir, Turkey