Impacting Rare Diseases Healthcare by Case-Based Telelearning: Description of the Dutch Pilot Metabolic Diseases ECHO.

Inherited metabolic diseases (IMDs) are individually (ultra)rare but collectively relatively common. The Extension for Community Healthcare Outcomes (ECHO) model has been used worldwide since 2003 to disseminate knowledge and best practices in chronic diseases. In 2024, the Dutch Society for Inborn Errors of Metabolism (ESN) launched a pilot Metabolic Diseases ECHO Program. We aimed to evaluate whether ECHO is a feasible model for IMD knowledge dissemination. We conducted a retrospective review of the design, implementation, and impact of the program. Since February 2025, two ECHO hubs have been established in two Dutch medical education and training regions (ETRs). Data have been prospectively collected through the iECHO platform. Program impact was assessed using Moore's Expanded Outcomes Framework, covering seven levels ranging from participation and satisfaction to competence development and population outcomes. The Metabolic Diseases ECHO Program has achieved broad geographic reach and strong engagement among healthcare professionals. To date, 15 sessions have been completed and 10 additional sessions are scheduled. A total of 208 professionals from diverse disciplines, including pediatrics, clinical genetics, clinical chemistry, and nursing, have participated, representing 10 of the 12 Dutch provinces. The program has stimulated the development of two regional treatment protocols and integrates all core academic tasks: patient care, education, and research. The ECHO model is a feasible and sustainable approach for disseminating expertise on IMDs. Our program demonstrates meaningful impact across the first four levels of Moore's framework. Long-term continuation and expansion to other Dutch-speaking regions are under consideration. Future work will focus on assessing the direct benefits for IMD patients.