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. NUMBER OF SUBJECTS PLANNED AND DURATION OF SUBJECT PARTICIPATION: There is no predetermined number of patients that must be enrolled into the outcome survey. Patients who have been diagnosed (biochemically or genetically) with Fabry disease that consent to participate will be followed for an undetermined amount of time (i.e., until the sponsor closes the outcome survey or the patient withdraws consent). TREATMENTS ADMINISTERED AND TREATMENT SCHEDULE: Patients consenting to participate in the outcome survey will either be untreated or treated with Replagal ERT. It is recommended that patients be followed at increments determined to be necessary by the treating physician. It is also recommended that data on all patients be entered into the outcome survey on a bi-annual basis (every six (6) months). Patients will not be supplied with Replagal at no charge as a result of participating in the Fabry Outcome Survey (FOS). Patients will receive Replagal through their participation in ongoing open label clinical trials or compassionate programs. Additionally, patients may receive commercially available product. SURVEY ASSESSMENT SCHEDULE: It is recommended that patients be followed at clinically relevant intervals determined by their treating physician. Data collected is to be entered into the FOS database as soon as possible after physician assessments. SURVEY METHODOLOGY: Observational data will be recorded in the FOS database based on routine clinical evaluations performed by the treating physician. STATISTICAL METHODOLOGY: The statistical analysis of FOS data will be performed by a bio-statistician designated by Shire HGT and in accordance with documented company guidelines and standard operating procedures.
- INCLUSION CRITERIA: This registry 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.