An observational study in Fabry Disease, sponsored by Amicus Therapeutics. Completed at 1 site in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2024-04-03.
Sponsored by Amicus Therapeutics · Observational
The objective of this study is to increase the understanding surrounding the choices presented to patients and families impacted by Fabry disease.
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.
242 studies on the registry are indexed under Fabry Disease; 54 are open to participants now.
This study's enrollment of 44 is below the median of 100 across 123 observational studies indexed under Fabry Disease.
Browse Fabry Disease studies →Amicus Therapeutics is the lead sponsor of 42 studies on the registry; 8 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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:
There will also be an attempt to recruit 5 patients from each of the two groups:
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.
Exclusion Criteria:
ERT users with mutation amenable to Galafold who did not switch
Other: This is a non-interventional study
ERT users with the mutation amenable to Galafold who switched and stayed on Galafold
Other: This is a non-interventional study
Those naïve to therapy with the mutation amenable to Galafold who went on and stayed on Galafold
Other: This is a non-interventional study
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
Participants who are ERT users with an amenable mutation who switched to and later discontinued Galafold
Other: This is a non-interventional study
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
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.
Time frame: 1-2 months
Plan to share: Yes — 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.
Supporting information: Sap, Analytic code
This study is completed, as verified in Apr 2024. You cannot join it, but the record below documents what was studied.
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Amicus Therapeutics