[Implementing a population-based rare diseases registry in Spain: the Navarre´s experience]

Area of Science:

• Public Health
• Epidemiology
• Health Informatics

Background:

• Rare diseases pose challenges for study due to low prevalence and non-specific coding in healthcare systems.
• The Spanish Rare Disease Registries Research Network (Spain-RDR) aimed to create a unified population-based registry.
• Regional registries were developed following a common methodology across Spain.

Purpose of the Study:

• To describe the creation and implementation of the Population-based Rare Disease Registry of Navarre.
• To highlight the methodology for case ascertainment and validation in a regional rare disease registry.
• To emphasize the importance of multi-source data analysis for rare disease epidemiology.

Main Methods:

• Established the Navarre registry in 2013, adopting the Spain-RDR's list of 934 ICD-9-CM codes.
• Initially utilized the Assisted Morbidity Registry (hospital discharge data) as the primary data source.
• Incorporated additional data sources and implemented ongoing case validation studies.

Main Results:

• The registry successfully integrated data from multiple sources, enhancing case detection capacity.
• Ongoing validation studies were conducted to address the high false positive rate inherent in rare disease data.
• The process demonstrated the feasibility of developing population-based rare disease registries at a regional level.

Conclusions:

• Population-based rare disease registries are essential for accurate disease quantification and study.
• Cross-referencing multiple data sources is critical for maximizing case detection.
• Rigorous case validation is necessary to ensure the reliability of epidemiological indicators for rare diseases.