Orphanet Journal of Rare Diseases | HEAR Registry Design: A National Registry with a European Extension Strategy

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This article introduces the design and implementation strategy of HEAR (Healthcare Amyloidosis European Registry), offering an innovative and comprehensive platform for real-world data collection and management for cardiac amyloidosis. The study highlights the systematic collection of patient-reported outcomes and proposes the potential of artificial intelligence to enhance patient engagement and data standardization.

 

Literature Overview
This article, titled 'The Healthcare Amyloidosis European Registry (HEAR): design of a national registry with a European extension strategy, and foundation of the F-CRIN GRACE network', published in the Orphanet Journal of Rare Diseases, reviews and summarizes the diagnostic pathways, treatment modalities, and patient-reported quality of life assessments for cardiac amyloidosis (CA). It also introduces the design and European extension strategy of the HEAR registry. The study aims to improve clinical management, support research, and inform policy decisions for CA through multicenter data collection and standardized processes. Paragraph line break

Background
Cardiac amyloidosis (CA) is a rare systemic disease characterized by the persistent deposition of insoluble fibrillar proteins in the extracellular matrix of the heart and other organs, leading to organ dysfunction. The main subtypes of CA include light-chain amyloidosis (AL), hereditary transthyretin amyloidosis (ATTRv), and non-hereditary wild-type transthyretin amyloidosis (ATTRwt). Diagnosis and treatment of these subtypes pose significant challenges, particularly due to insidious early symptoms, diagnostic delays, and lack of unified clinical pathways. Although international and national registries (e.g., THAOS, EURAMY, NAC Database) have provided valuable data for CA research, they still face limitations in scale, inclusion criteria, and follow-up strategies, such as limited coverage, insufficient data standardization, and lack of patient-centered tools. Therefore, this article proposes the HEAR registry, aiming to provide a pan-European, high-quality data platform for CA research and treatment optimization through standardized data collection, patient-centered design, and artificial intelligence technologies. Paragraph line break

 

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Research Methods and Implementation
The HEAR registry employs a multicenter observational design across 34 centers in France and plans to enroll 8,500 patients with suspected or confirmed CA between July 2021 and December 2027. The registry is divided into three cohorts: (1) a retrospective cohort including CA patients diagnosed after 2009 who have passed away, used for natural history analysis; (2) a retrospective-prospective cohort including CA patients diagnosed after 2009 who are still alive, used for real-world follow-up; and (3) a prospective cohort including newly referred patients with suspected CA, used to evaluate diagnostic pathways and management changes. Data are collected via a structured electronic case report form (e-CRF), covering demographics, clinical, laboratory, imaging, treatment, and quality of life (QoL) information. In addition, HEAR plans to integrate an AI-driven patient chatbot to support patient education, questionnaire completion, health literacy improvement, and data collection standardization. Paragraph line break

Key Findings and Perspectives

• The HEAR registry is currently the largest multicenter registry platform for CA in Europe, covering all CA subtypes and including suspected cases.
• By integrating AI-driven imaging analysis through the MIRACL.ai core lab and standardized data collection, HEAR provides unified and high-quality disease data.
• The registry design supports collaboration with the European Clinical Research Infrastructure Network (E-CRIN), enabling data harmonization, regulatory alignment, and support for multinational clinical trials.
• Patient-reported outcomes (PROMs) and patient-reported experiences (PREMs) are systematically integrated to enhance patient-centered research and quality of care assessments.
• HEAR plans to expand to other European countries, providing a foundation for multinational CA research and treatment optimization.

Research Implications and Future Directions
The establishment of the HEAR registry provides a valuable real-world data resource for CA research. Its standardized data collection and multicenter collaboration mechanism can support future clinical trial designs and treatment strategy optimization. By integrating AI technologies, HEAR offers significant advantages in data quality and patient engagement, and is poised to advance integrated CA diagnosis and treatment across Europe. Paragraph line break

 

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Conclusion
This article introduces the design and implementation of the HEAR registry, which aims to improve early diagnosis and treatment pathways for CA through standardized data collection, AI-assisted analysis, and European multicenter collaboration. The registry not only provides data support for studying the natural history, genotype-phenotype correlations, and treatment responses of CA, but also lays the foundation for future multinational clinical trials and treatment strategy development. Additionally, the AI-driven data collection and patient engagement modules in HEAR offer new possibilities for improving QoL assessments and clinical decision-making. Paragraph line break

 

Patricia Réant, Mounira Kharoubi, Erwan Donal, Olivier Lairez, and Thibaud Damy. The Healthcare Amyloidosis European Registry (HEAR): design of a national registry with a European extension strategy, and foundation of the F-CRIN GRACE network. Orphanet Journal of Rare Diseases.