Fabry DiseaseNCT04804566
Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients
An observational study of Fabry Disease, run by Amicus Therapeutics at 1 site in United States.
Trial summary
The objective of this study is to increase the understanding surrounding the choices presented to patients and families impacted by Fabry disease. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fabry Disease
- What is being tested?
- This is a non-interventional study
- How many people
- 44 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Mar 2023to 1 Nov 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
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.
Who may be able to join
- 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).
Who cannot join
- Inability to meet any of the inclusion criteria
Trial locations and contacts
1 site in 1 country.
About this study
The objective of this study is to increase the understanding surrounding the choices presented to patients and families impacted by Fabry disease.
Read the 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.
- Conditions
- Fabry Disease
- Being tested
- This is a non-interventional study
- Keywords
- Hypohidrosis, Proteinuria, Angiokeratoma
- Medical subject headings
- Fabry Disease, Hypohidrosis, Proteinuria, Angiokeratoma
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
This is a non-interventional studyOther
This is a non-interventional study
| Study group | Role | What they receive |
|---|---|---|
| ERT User- Did Not Switch to Galafold | ERT users with mutation amenable to Galafold who did not switch Receives: Other: 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 Receives: Other: 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 Receives: Other: 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. Receives: Other: 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 Receives: Other: 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 Receives: Other: This is a non-interventional study |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 1-2 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Mar 2021
- Study start1 Mar 2023
- Primary completion1 Nov 2023
- Study completion1 Nov 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 44 participants (actual)
Sponsor and investigators
- Lead sponsor
- Amicus Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Engage Health Inc.
- Responsible party
- Sponsor
- Investigators
- Niloofar Nobakht, MD, Principal investigator, Ronald Regan UCLA Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04804566
- Sponsor's protocol ID
- AT-NIS-00002
- Status last verified
- Apr 2024
- First submitted
- 16 Mar 2021
- Last updated
- 3 Apr 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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.
Study at a glance
From the registry record, last updated by the sponsor on 3 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Understanding Fabry Disease Therapy Choices Through the Eyes of the Patients
- ClinicalTrials.gov ID
- NCT04804566
- Acronym / sponsor ID
- AT-NIS-00002
- Conditions
- Fabry Disease
- Keywords
- Hypohidrosis, Proteinuria, Angiokeratoma
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 44 participants (actual)
- Lead sponsor
- Amicus TherapeuticsIndustry (pharma, biotech, devices)
- Collaborators
- Engage Health Inc.
- Study start
- 1 Mar 2023 (actual)
- Primary completion
- 1 Nov 2023 (actual)
- Study completion
- 1 Nov 2023 (actual)
- First posted
- 18 Mar 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| ERT User- Did Not Switch to Galafold | – | Other: This is a non-interventional studyERT users with mutation amenable to Galafold who did not switch |
| ERT User- Switched and Stayed on Galafold | – | Other: This is a non-interventional studyERT users with the mutation amenable to Galafold who switched and stayed on Galafold |
| No Previous Therapy- Started Galafold and Stayed On | – | Other: This is a non-interventional studyThose naïve to therapy with the mutation amenable to Galafold who went on and stayed on Galafold |
| No Previous Therapy- No Current Therapy | – | Other: This is a non-interventional studyThose who were naïve to therapy with the mutation amenable to Galafold and have never been on any therapy. |
| ERT Users- Switched and Discontinued Galafold | – | Other: This is a non-interventional studyParticipants who are ERT users with an amenable mutation who switched to and later discontinued Galafold |
| No Previous Therapy- Started Galafold and Discontinued | – | Other: This is a non-interventional studyParticipants who are naïve to therapy with an amenable mutation, went on Galafold, and discontinued |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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.
Key inclusion criteria (7 listed)
- 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.
Key exclusion criteria (1 listed)
- Inability to meet any of the inclusion criteria
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| This is a non-interventional studyThis is a non-interventional study | Other | ERT User- Did Not Switch to Galafold, ERT User- Switched and Stayed on Galafold, ERT Users- Switched and Discontinued Galafold, No Previous Therapy- No Current Therapy, No Previous Therapy- Started Galafold and Discontinued, No Previous Therapy- Started Galafold and Stayed On |
Primary outcome
Patterns and Trends that Provide Evidence and Context for the Treatment Choices and Experiences of Those with Fabry Disease
Time frame: 1-2 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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Apr 2024.
- Galafold and Fabry DiseaseLink provided by the sponsor.
- Review of Fabry DiseaseLink provided by the sponsor.
- Individual participant dataSharing planned: 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Niloofar Nobakht, MD principal investigator
Ronald Regan UCLA Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Amicus Therapeutics at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 7 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 3 Apr 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Patterns and Trends that Provide Evidence and Context for the Treatment Choices and Experiences of Those with Fabry Disease (time frame: 1-2 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Apr 2024.