Fabry Outcome Survey (FOS)

Shire4,000 enrolled

Overview

The purpose of this study is to collect data that will increase understanding of Fabry disease history and progression, in treated and untreated patients with Fabry disease. The data from FOS may provide guidance to healthcare professionals about disease treatment options.

Study Type

OBSERVATIONAL

Enrollment

4,000

Conditions

Fabry Disease

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: 1. Participants must have a documented diagnosis of Fabry disease * This may include a genetic mutation analysis. The collection of the genetic mutation analysis result is optional and dependent on the participant providing their consent for this data to be used in the FOS registry. * Participants can be untreated, currently or previously treated with Replagal, or any other approved treatment for Fabry disease. 2. Signed and dated written informed consent from the participant * For participants aged less than (\<) 18 years (or as per local regulation), parent and/or participant's legally authorized representative (LAR), and assent of the minor, where applicable, is necessary. * If a participant is unable to read or if a legally acceptable representative is unable to read, an impartial witness should be present during the informed consent discussion and should sign and personally date the informed consent. * Informed consent must be obtained from LARs for cognitively impaired participants when applicable. Exclusion Criteria: 1\. Participants currently enrolled in ongoing blinded clinical trials (drugs or devices; includes all blinded trials) will be excluded from the Registry.

Locations (1)

Shire

Lexington, Massachusetts, United States

Outcomes

Primary Outcomes

Number of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs)

An adverse event (AE) is any noxious, pathologic, or unintended change in anatomical, physiologic, or metabolic function as indicated by physical signs, symptoms, or laboratory changes occurring in the registry, whether or not considered product-related. This includes an exacerbation of a pre-existing condition. An AE or ADR that meets one or more of the following criteria/outcomes is classified as SAE whether considered to be related to the pharmaceutical product or not: death, life-threatening, requires inpatient hospitalization or prolongation of existing hospitalizations, a persistent or significant disability or incapacity, a congenital anomaly or birth defect and important medical events.

Time frame: Baseline to year 20

Number of Participants With Infusion-related Reactions (IRRs)

An infusion-related reaction (IRR) is defined as an AE that has been assessed as at least possibly related to treatment with Replagal and occurs during an infusion or up to 24 hours post Replagal infusion.

Time frame: Baseline to year 20

Renal Function by Estimated Glomerular Filtration Rate (eGFR)

Renal function will be measured by Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) for adults and by Counahan-Barratt for children (\<18 years).

Time frame: Baseline to year 20

Left Ventricular Mass Index (LVMI)

Left ventricular mass index (LVMI) will be assessed from baseline or from birth (age at event) to evaluate the course of Fabry disease in participants who are currently untreated or are being treated with an approved Fabry treatment.

Time frame: Baseline to year 20

Age at Mortality Event (survival)

Age at mortality event (survival) will be analysed with relevant split by demographic or baseline characteristic using Kaplan-Meier survival estimates with censoring at last visit in Fabry Outcome Survey (FOS)

Data from ClinicalTrials.gov

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