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Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients

Completed
Conditions
Fabry Disease
Interventions
Other: This is a non-interventional study
Registration Number
NCT04804566
Lead Sponsor
Amicus Therapeutics
Brief Summary

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

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.

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
44
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 & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Arm && Interventions
GroupInterventionDescription
No Previous Therapy- No Current TherapyThis is a non-interventional studyThose who were naïve to therapy with the mutation amenable to Galafold and have never been on any therapy.
ERT User- Did Not Switch to GalafoldThis is a non-interventional studyERT users with mutation amenable to Galafold who did not switch
No Previous Therapy- Started Galafold and Stayed OnThis is a non-interventional studyThose naïve to therapy with the mutation amenable to Galafold who went on and stayed on Galafold
No Previous Therapy- Started Galafold and DiscontinuedThis is a non-interventional studyParticipants who are naïve to therapy with an amenable mutation, went on Galafold, and discontinued
ERT User- Switched and Stayed on GalafoldThis is a non-interventional studyERT users with the mutation amenable to Galafold who switched and stayed on Galafold
ERT Users- Switched and Discontinued GalafoldThis is a non-interventional studyParticipants who are ERT users with an amenable mutation who switched to and later discontinued Galafold
Primary Outcome Measures
NameTimeMethod
Patterns and Trends that Provide Evidence and Context for the Treatment Choices and Experiences of Those with Fabry Disease1-2 months

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.

Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

Engage Health

🇺🇸

Eagan, Minnesota, United States

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