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The Italian Fabry Disease Cardiovascular Registry (IFDCR)
Giuseppe Limongelli1,2, Elena Biagini2,3, Francesco Cappelli4
1Inherited and Rare Cardiovascular Diseases, Department of Translational Medical Sciences, University of Campania 'Luigi Vanvitelli', Monaldi Hospital, Naples 80131, Italy.
Insights
The Italian Fabry Disease Cardiovascular Registry (IFDCR) is a multicenter study collecting data on Fabry disease (FD) patients to improve understanding and management of cardiovascular complications. This registry aims to enhance clinical care and outcomes for individuals with FD.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Fabry disease (FD) is a rare genetic disorder with significant cardiovascular manifestations.
- Existing knowledge gaps hinder optimal clinical care and outcomes for FD patients, particularly concerning cardiovascular aspects.
Purpose of the Study:
- To establish and utilize the Italian Fabry Disease Cardiovascular Registry (IFDCR) to address knowledge gaps in FD.
- To improve the epidemiology, natural history, genotype-phenotype correlations, diagnosis, and management of cardiovascular manifestations in FD.
Main Methods:
- An international, longitudinal, multicentre, non-interventional, observational study.
- Inclusion of consecutive patients aged ≥2 years diagnosed with FD.
- Data collection includes retrospective (1981-2023) and prospective (2024-2031) enrolment, covering demographics, clinical data, imaging, genetic results, and outcomes.
Main Results:
- The IFDCR is a comprehensive national registry involving 50 Italian centers.
- It gathers detailed, multiparametric data throughout the patient journey and across clinical manifestations.
- The registry facilitates in-depth analysis of cardiovascular involvement in Fabry disease.
Conclusions:
- The IFDCR serves as a robust platform for advancing research in Fabry disease.
- It is instrumental in enhancing the quality of care and driving high-impact research for FD patients.
- The registry's data will contribute to a better understanding and management of cardiovascular complications in FD.
Aims:
The Italian Fabry Disease Cardiovascular Registry (IFDCR) comprises 50 Italian centres with specific expertise in managing cardiovascular manifestations and complications of patients with Fabry disease (FD). The primary aim of the IFDCR is to examine and improve the clinical care and outcomes of patients with FD by addressing several knowledge gaps in the epidemiology, natural history, genotype-phenotype correlations, diagnosis, and management of this condition, with particular focus on cardiovascular manifestations and complications.
Methods And Results:
The IFDCR is an international, longitudinal, multicentre, non-interventional, observational study. Consecutive patients aged ≥2 years with a diagnosis of FD will be included in the study. The recruitment period consists of two parts: the retrospective enrolment period, from January 1981 to December 2023, and the prospective enrolment period, spanning from January 2024 to December 2031. The registry collects baseline and follow-up data, including the enrolment setting, patient demographics, family history, symptoms, clinical manifestations, electrocardiogram, cardiovascular imaging, laboratory assessment, medical therapy, genetic testing results, and outcomes.
Conclusions:
The IFDCR is a national, multicentre, registry that includes patients with FD. It holds detailed and multiparametric data across the patient pathway and clinical manifestations, acting as a powerful tool for improving the quality of care and conducting high-impact research.
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