OBJECTIVES: Fabry disease (FD) is a rare X-linked lysosomal disorder that results in excessive deposition of lipids in the tissues. FD is a progressive, destructive and potentially life-threatening disease. Real-world data (RWD) is gaining importance as the preferred evidence by stakeholders to demonstrate disease burden and treatment outcomes in clinical practice settings. We aimed to identify and map the existing RWD sources of FD, addressing the gap in comprehensive global data availability.

METHODS: A targeted literature review was conducted using Embase and Medline for last 3 years (Jan 2022-May 2024). Clinical trials, systematic/narrative reviews or commentaries were excluded. Identified abstracts were screened for relevance. RWD sources were categorized into studies and registries (observational studies, pragmatic trials, health surveys, interviews, registries), clinical records (electronic medical records, case notes, administrative records, claims), and unsupervised sources (personal devices, smartphones, social media). Data on disease-, patient- and treatment-specific variables were extracted.

RESULTS: Literature search provided 239 publications, of which 80 publications (33%) relating to 65 potentially unique RWD sources were included. RWD sources comprised studies and registries (n=43, 66%) and clinical records (n=22, 34%). None of the publications used unsupervised sources. Twelve (18%) registries were identified. These sources were primarily from EU4 countries (n=14, 22%), followed by Asia (n=11, 17%), USA and Canada (n=10, 15%), the UK (n=5, 8%), and Latin America (n=4, 6%). Number of patients across data sources varied widely, ranging from 1 to 10,637 patients. A diverse range of FD data was covered, including differential diagnosis, genetic screening, comorbidities, disease complications and burden, quality of life, patient-reported outcomes, and treatment effectiveness and safety.

CONCLUSIONS: This study identified several RWD sources that exist globally for FD. These RWD sources could potentially be suitable for conducting future research and support the need for more global RWD collection and real-word evidence studies in FD.