Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients

The objective of this study is to increase the understanding surrounding the choices presented to patients and families impacted by Fabry disease.

Study Overview

• Status: Completed
• Conditions: Fabry Disease
• Intervention / Treatment: Other: This is a non-interventional study

Detailed Description

This will be a cross-sectional study conducted in approximately 130 individuals (or representative parents/caregivers of patients) living with Fabry disease. All study participants will complete the RSVP followed by a structured interview conducted by trained interviewers. It is estimated that each respondent will need up to 60 minutes for the entire process; 10 minutes to complete the RSVP including uploading the proof of Fabry disease diagnosis or verifying membership with Fabry groups, including but not limited to: Fabry Support and Information Group, National Fabry Disease Foundation, MPS Society UK, Morbus Fabry Selbsthilfergruppe, Fabry International Network, or others, and approximately 50 minutes to complete the interview.

• Study Type: Observational
• Enrollment (Actual): 44

Contacts and Locations

• Study Contact: Name: Patti A Engel, RN, BSN; Phone Number: 612-994-0510; Email: pengel@engagehealth.com
• Study Contact Backup: Name: Skyler K Jackson, BA; Phone Number: 9136337524; Email: sjackson@engagehealth.com

Study Locations

• United States
  • Minnesota
    • Eagan, Minnesota, United States, 55121
      • Engage Health

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Purposive sampling techniques will be used which will seek to initially recruit 30 participants (person with Fabry or their parent/legal guardian) from each of four groups noted below:

1. ERT users with an amenable mutation, who did not switch
2. ERT users with an amenable mutation, who switched to Galafold and stayed on
3. Those naïve to therapy with an amenable mutation, who went on Galafold and stayed on
4. Those naïve to therapy with an amenable mutation, who have never been on any therapy.

There will also be an attempt to recruit 5 patients from each of the two groups:

1. ERT users with an amenable mutation, who switched and discontinued Galafold, and
2. Those naïve to therapy, with an amenable mutation, who went on Galafold and discontinued.

In order to get a geographic sampling, the first four groups will attempt to recruit 30 patients/parents or caregivers of patients with representation from Germany, the UK, and the US.

Description

Inclusion Criteria:

• Participant must be a person with Fabry disease who is 18 years or older or the parent/legal guardian of a living person with Fabry disease who is under the age of 18 years or who are 18 years and older who are unable to answer for themselves.
• Confirmed diagnosis of Fabry disease with written proof of disease provided
• Must have a genetic mutation that is amenable to oral therapy
• Resident of Germany, the U.K or the U.S.
• Able to read, write and communicate in German, or English.
• Able to grant informed consent
• Willing to participate in a 50 to 60-minute telephone interview, including follow up questions (if necessary) and information regarding adverse events (if necessary).

Exclusion Criteria:

• Inability to meet any of the inclusion criteria

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

6

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
ERT User- Did Not Switch to Galafold; ERT users with mutation amenable to Galafold who did not switch	Other: This is a non-interventional study; This is a non-interventional study
ERT User- Switched and Stayed on Galafold; ERT users with the mutation amenable to Galafold who switched and stayed on Galafold	Other: This is a non-interventional study; This is a non-interventional study
No Previous Therapy- Started Galafold and Stayed On; Those naïve to therapy with the mutation amenable to Galafold who went on and stayed on Galafold	Other: This is a non-interventional study; This is a non-interventional study
No Previous Therapy- No Current Therapy; Those who were naïve to therapy with the mutation amenable to Galafold and have never been on any therapy.	Other: This is a non-interventional study; This is a non-interventional study
ERT Users- Switched and Discontinued Galafold; Participants who are ERT users with an amenable mutation who switched to and later discontinued Galafold	Other: This is a non-interventional study; This is a non-interventional study
No Previous Therapy- Started Galafold and Discontinued; Participants who are naïve to therapy with an amenable mutation, went on Galafold, and discontinued	Other: This is a non-interventional study; This is a non-interventional study

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Patterns and Trends that Provide Evidence and Context for the Treatment Choices and Experiences of Those with Fabry Disease	The goal of the statistical analysis is to uncover patterns and trends that provide both evidence and context for the treatment choices and experiences of patients and families impacted by Fabry disease. All findings will be summarized in the final report, which will not identify any respondent as described above. At the conclusion of this study, the researchers may publish their findings in a medical / scientific journal.	1-2 months

Collaborators and Investigators

• Sponsor: Amicus Therapeutics
• Collaborators: Engage Health Inc.
• Investigators: Principal Investigator: Niloofar Nobakht, MD, Ronald Regan UCLA Medical Center

Publications and helpful links

Helpful Links

• Galafold and Fabry Disease
• Release Date for Galafold
• Review of Fabry Disease
• About Fabry Disease
• About Fabry Disease

Study record dates

Study Major Dates

• Study Start (Actual): March 1, 2023
• Primary Completion (Actual): November 1, 2023
• Study Completion (Actual): November 1, 2023

Study Registration Dates

• First Submitted: March 16, 2021
• First Submitted That Met QC Criteria: March 16, 2021
• First Posted (Actual): March 18, 2021

Study Record Updates

• Last Update Posted (Actual): April 3, 2024
• Last Update Submitted That Met QC Criteria: April 2, 2024
• Last Verified: April 1, 2024

More Information

Terms related to this study

• Keywords: Proteinuria; Hypohidrosis; Angiokeratoma
• 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-00002

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: YES

IPD Plan Description

The pseudonymized answers provided by each respondent will be combined with those of others participating in the study and the pseudonymized database (Excel format) will be locked and provided to Engage Health personnel for analysis ("Study Data"). The goal of the statistical analysis is to uncover patterns and trends that provide both evidence and context for the treatment choices and experiences of patients and families impacted by Fabry disease.

All findings will be summarized in the final report, which will not identify any respondent as described above. At the conclusion of this study, the researchers may publish their findings in a medical/scientific journal.

• IPD Sharing Supporting Information Type: SAP; ANALYTIC_CODE

Drug and device information, study documents

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