Clinical Trial: Registry of Fabry Disease - A Multicenter Observational Study

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Registry of Fabry Disease: A Multicenter, Longitudinal Observational Study

Brief Summary:

The purpose of this study is to compile a registry of patients with Fabry disease, an inherited metabolic disorder. In this disease, an enzyme called a-galactosidase A, which normally breaks down a lipid (fatty substance) called globotriaosylceramide (Gb3), is missing or does not function properly. As a result, Gb3 accumulates, causing problems with the kidneys, heart, nerves, and blood vessels. It is not known exactly how lipid accumulation causes these problems, but in another lipid storage disease called Gaucher disease the illness can be reversed if the accumulated lipid is removed by repeated intravenous (into a vein) infusions of the deficient enzyme.

The Fabry disease registry is a voluntary and anonymous list of patients that includes information about their health and allows doctors to follow changes in their symptoms and test results over time. It also allows doctors to compare symptoms between patients who are receiving certain therapies with those who are not receiving therapy. The goals of the registry are to:

  • Better understand the natural history of Fabry disease, including disease variations within and between affected families;
  • Provide a basis for developing guidelines for disease management;
  • Evaluate how treatment affects the course of disease;
  • Provide high-quality data and analyses that will help to continuously develop better treatments.

Patients of all ages with biochemical or genetic evidence of Fabry disease (i.e., individuals who have a deficiency of the enzyme a-galactosidase A or a mutation in the gene that encodes this enzyme, or both) are eligible for this study. This worldwide study will include 100 patie

Detailed Summary:

PROTOCOL TITLE: Registry of Fabry Disease: A Multicenter, Longitudinal Observational Study

PROTOCOL IDENTIFIER: FOS (Fabry Outcome Survey)

PHASE OF DEVELOPMENT: Post Marketing Outcome Survey (Outcome Survey)

SURVEY OBJECTIVES/ENDPOINTS:

The primary objectives of this outcome survey are to:

  • enhance the understanding of the natural history of Fabry disease, including the intra- and inter-familial variations
  • provide a basis for the development of management guidelines for Fabry disease
  • evaluate the impact of therapeutic intervention on the clinical course of Fabry disease
  • generate data and analyses to enable the continuous improvement of Fabry disease treatment
  • collect long term safety and efficacy data on patients treated with Replagal enzyme replacement therapy

INCLUSION CRITERIA:

This registry/outcome survey is open for all patients of all ages, male and female, with a confirmed diagnosis of Fabry disease.

EXCLUSION CRITERIA:

  • Patients who are unwilling to give informed consent.
  • Patients who are receiving enzyme replacement therapy other than Replagal for Fabry Disease
  • Patients currently enrolled in an ongoing blinded clinical trial in which the product is considered investigational.