Understanding Fabry Disease Therapy Cho… | Clinical Trial

Key information

Conditions

Fabry Disease Angiokeratoma Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Genetic Diseases, X-Linked Hypohidrosis Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Male Urogenital Diseases Metabolic Diseases Metabolism, Inborn Errors Neoplasms Neoplasms by Histologic Type Neoplasms, Vascular Tissue Nervous System Diseases Nutritional and Metabolic Diseases Pathological Conditions, Signs and Symptoms Proteinuria Signs and Symptoms Skin Diseases Skin and Connective Tissue Diseases Sphingolipidoses Sweat Gland Diseases Urination Disorders Urogenital Diseases Urologic Diseases Urological Manifestations Vascular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Engage Health

Eagan, Minnesota, 55121, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

This is a non-interventional study

Other

This is a non-interventional study

Primary outcomes

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.

Sponsors and collaborators

Lead sponsor

Amicus Therapeutics

Industry

Collaborators

Engage Health Inc.

Registry information

Important dates

Study start: 2023
Primary completion: 2023
Study completion: 2023
First posted: Mar 18, 2021
Registry last updated: Apr 3, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed