Description

The Essen Amyloidosis Registry (EAR) is a single-center, prospective, observational registry designed to systematically collect clinical, laboratory, imaging, and outcome data from patients with suspected or confirmed systemic amyloidosis. The registry aims to improve the understanding of disease characteristics, diagnostic pathways, and treatment outcomes. While cardiac amyloidosis remains a main focus, EAR includes all forms of systemic amyloidosis, such as light-chain (AL) amyloidosis, transthyretin amyloidosis (ATTR, both hereditary and wild-type), and rarer subtypes.

Data collected include demographic information, medical history, comorbidities, diagnostic findings, treatment strategies, and longitudinal follow-up data on disease progression and therapy response. Standardized assessments include serial laboratory tests, cardiac and other imaging modalities (e.g., echocardiography, cardiac MRI, scintigraphy), and functional status evaluations. Routine quality-of-life assessments, as part of standard clinical practice, are also documented. Patients will not be required to complete additional study-specific questionnaires.

The registry further integrates a biobank component, in which biological samples are collected for biomarker analysis. Given the current limitations of available diagnostics-such as insufficient sensitivity for early disease detection and a lack of robust markers for therapy monitoring-these biospecimens may help identify new prognostic and predictive biomarkers.

EAR enables the analysis of risk factors, disease progression, and long-term outcomes based on real-world clinical data. The registry also serves as an internal quality control tool, ensuring standardized data collection and treatment monitoring. Patients remain under regular clinical follow-up, with routine evaluations every 3 to 6 months, depending on their disease stage and treatment regimen. These visits typically include resting ECGs, blood tests, imaging studies, and device checks (for patients with pacemakers or defibrillators).

The Essen Amyloidosis Registry aims to create a comprehensive dataset that can be utilized for future research projects. Sub-projects addressing specific scientific questions will be submitted as separate ethics applications. The study follows standard clinical care guidelines, with examinations performed according to established Standard Operating Procedures (SOPs) for amyloidosis management.