Rare disease registries are essential tools for improving knowledge of rare conditions, supporting clinical research, facilitating collaboration between healthcare professionals and enabling better patient care. However, the rapid growth of registries has highlighted the need for standardized approaches to evaluate registry quality, including aspects related to governance, infrastructure, documentation, data quality, and sustainability.

To assess the essential characteristics and quality features of rare disease registries and to develop a framework that can support the evaluation and improvement of registry standards.

A structured assessment framework was developed based on existing recommendations and international standards for rare disease registries. Key domains considered included registry governance, data collection processes, data quality, interoperability, accessibility, sustainability, and compliance with principles for responsible data management. The framework was applied to evaluate the essential features required for high-quality rare disease registries.

The assessment identified several essential elements required for effective rare disease registries, including clear governance structures, standardized data elements, defined operating procedures, quality control mechanisms, and sustainable funding models. The evaluation highlighted the importance of adopting internationally recognized principles, including FAIR data practices (Findable, Accessible, Interoperable and Reusable), to maximize the value of registry data for research and healthcare improvement.

High-quality rare disease registries require robust infrastructure, standardized processes, and effective governance. The proposed evaluation approach provides a framework to support registry development and continuous improvement, ultimately enhancing the use of registry data for clinical care, research, and health policy.

The quality of rare disease registries directly influences their ability to support research, clinical decision-making, and international collaboration. Establishing common standards for registry evaluation can improve data quality, interoperability, and sustainability across rare disease networks.