Charting Early Developmental Trajectory of a Pilot Rare Disease Registry in Slovenia.

Abstract

Active surveillance of rare diseases enables evidence-informed policymaking, wide-ranging monitoring of rare disease patients, and subsequently assists progressively complex clinical and research needs. This article charts the initial steps for the development of a pilot rare disease registry in Slovenia. The research applies a case study design, while the collection of data was carried out through focus group discussions with 24 eminent experts from the field. The research results reveal the necessity for choosing an adequate development approach and point out that successful development of the national rare disease registry requires well-orchestrated efforts of all stakeholders. This inevitably includes effective preparation and implementation of the national rare disease policy, along with the divergence of clinical, organizational, and technological factors, and their integration with the long-standing public health goals.