NCT04804566

Brief Summary

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

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
44

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Mar 2023

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

March 16, 2021

Completed
2 days until next milestone

First Posted

Study publicly available on registry

March 18, 2021

Completed
2 years until next milestone

Study Start

First participant enrolled

March 1, 2023

Completed
8 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

November 1, 2023

Completed
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

November 1, 2023

Completed
Last Updated

April 3, 2024

Status Verified

April 1, 2024

Enrollment Period

8 months

First QC Date

March 16, 2021

Last Update Submit

April 2, 2024

Conditions

Keywords

HypohidrosisProteinuriaAngiokeratoma

Outcome Measures

Primary Outcomes (1)

  • 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.

    1-2 months

Study Arms (6)

ERT User- Did Not Switch to Galafold

ERT users with mutation amenable to Galafold who did not switch

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

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

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.

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

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

Other: This is a non-interventional study

Interventions

This is a non-interventional study

ERT User- Did Not Switch to GalafoldERT User- Switched and Stayed on GalafoldERT Users- Switched and Discontinued GalafoldNo Previous Therapy- No Current TherapyNo Previous Therapy- Started Galafold and DiscontinuedNo Previous Therapy- Started Galafold and Stayed On

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-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.

You may qualify if:

  • 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).

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Engage Health

Eagan, Minnesota, 55121, United States

Location

Related Links

MeSH Terms

Conditions

Fabry DiseaseHypohidrosisProteinuriaAngiokeratoma

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesCerebral Small Vessel DiseasesCerebrovascular DisordersVascular DiseasesCardiovascular DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolism, Inborn ErrorsLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism DisordersSweat Gland DiseasesSkin DiseasesSkin and Connective Tissue DiseasesUrination DisordersUrologic DiseasesFemale Urogenital DiseasesFemale Urogenital Diseases and Pregnancy ComplicationsUrogenital DiseasesMale Urogenital DiseasesUrological ManifestationsSigns and SymptomsPathological Conditions, Signs and SymptomsNeoplasms, Vascular TissueNeoplasms by Histologic TypeNeoplasms

Study Officials

  • Niloofar Nobakht, MD

    Ronald Regan UCLA Medical Center

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
INDUSTRY
Responsible Party
SPONSOR

Study Record Dates

First Submitted

March 16, 2021

First Posted

March 18, 2021

Study Start

March 1, 2023

Primary Completion

November 1, 2023

Study Completion

November 1, 2023

Last Updated

April 3, 2024

Record last verified: 2024-04

Data Sharing

IPD Sharing
Will share

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.

Shared Documents
SAP, ANALYTIC CODE

Locations