Clinical trial NCT04804566: Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients
Official title: Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Fabry Disease
Keywords: Hypohidrosis
Proteinuria
Angiokeratoma
Lead sponsor: Amicus Therapeutics
Sponsor class: INDUSTRY
Collaborators: name: Engage Health Inc.
First posted: 2021-03-18
Enrollment: 44
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

Eligibility criteria: 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

Primary outcomes:
measure: Patterns and Trends that Provide Evidence and Context for the Treatment Choices and Experiences of Those with Fabry Disease
timeFrame: 1-2 months
Secondary outcomes:
Other outcomes:
Locations:
city: Eagan
country: United States
facility: Engage Health
state: Minnesota
Study officials:
affiliation: Ronald Regan UCLA Medical Center
name: Niloofar Nobakht, MD
role: PRINCIPAL_INVESTIGATOR
References: