Global reach of over 20 years experience in the patient-centered Fabry Registry

Design of the Fabry Registry and objectives

• The Fabry Registry is a multicenter, international, longitudinal, observational study open to all patients with a confirmed diagnosis of FD, irrespective of treatment status or therapy administered
• It is designed to collect consistent retrospective and prospective patient data with the primary objectives of exploring and defining the variability in the natural history and clinical characteristics across the disease spectrum, and of tracking and characterizing long-term treatment outcomes in a real-world setting

Enrollment of patients in the Fabry Registry over time

• The Fabry Registry has grown significantly from an initial enrollment of 21 patients with FD at two sites in 2001 to 8,098 patients (43.5% male, 56.5% female) as of October 7, 2022
• The Fabry Registry has a global reach, with a current presence in 44 countries worldwide and 219 participating sites (EMEA 45.7%; North America 40.3%; JAPAC 8.1%; Latin America 5.9%)
• Genotype data are available for 90.3% of patients and, overall, 1,039 GLA variants are represented in the Fabry Registry: classic phenotype (406 variants, 3,532 patients), later-onset phenotype (54 variants, 1,239 patients), and “other” phenotypes* (e.g. 70 variants, 762 patients)

Cumulative numbers of participating physicians and patients enrolled in the Fabry Registry by year of enrollment

* [Likely] benign, likely classic, likely later-onset, variants of uncertain significance.
**Date of treatment initiation (for “ever-treated” patients) or date of most recent data entry (for “never-treated” patients).

Topics covered by Fabry Registry publications

Key contributions from 20+ years of the Fabry Registry

• The Fabry Registry has now been operational for over 20 years and has collected real-world demographic and longitudinal clinical data from more than 8,000 individuals with FD
• Leveraging the accumulating evidence base, multidisciplinary collaborations have resulted in the creation of 32 peer-reviewed scientific publications on the onset and progression of FD, its clinical management, the role of sex and genetics, the outcomes of ERT with Fabrazyme®, and prognostic factors

Use of real-world data in global multistakeholder collaborations

• Fabry Registry analyses are used in multistakeholder engagement between healthcare professionals, patients and patient organizations, payors, and healthcare policy makers, and can support decision making by regulatory agencies
• The patient-centered Fabry Registry fosters collaborative research partnerships with the overarching goal of optimizing the clinical management of patients with FD and is well positioned to add to its past achievements

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