Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients

Amicus Therapeutics

Status: Completed

Conditions: Fabry Disease

Treatments: Other: This is a non-interventional study

Study type: Observational

Funder types: Industry

Identifiers

NCT04804566

AT-NIS-00002

Details and patient eligibility

About

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

Full 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.

Enrollment: 44 patients

Sex: All

Ages: 18+ years old

Volunteers: No Healthy Volunteers

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

Trial design

44 participants in 6 patient groups

ERT User- Did Not Switch to Galafold

Description:

ERT users with mutation amenable to Galafold who did not switch

Treatment:

Other: This is a non-interventional study

ERT User- Switched and Stayed on Galafold

Description:

ERT users with the mutation amenable to Galafold who switched and stayed on Galafold

Treatment:

Other: This is a non-interventional study

No Previous Therapy- Started Galafold and Stayed On

Description:

Those naïve to therapy with the mutation amenable to Galafold who went on and stayed on Galafold

Treatment:

Other: This is a non-interventional study

No Previous Therapy- No Current Therapy

Description:

Those who were naïve to therapy with the mutation amenable to Galafold and have never been on any therapy.

Treatment:

Other: This is a non-interventional study

ERT Users- Switched and Discontinued Galafold

Description:

Participants who are ERT users with an amenable mutation who switched to and later discontinued Galafold

Treatment:

Other: This is a non-interventional study

No Previous Therapy- Started Galafold and Discontinued

Description:

Participants who are naïve to therapy with an amenable mutation, went on Galafold, and discontinued

Treatment:

Other: This is a non-interventional study