Achieving Key Objectives In Rare Diseases Healthcare Policy In Spain: Contribution From A Dravet Syndrome Working Group

Abstract

Elucidate main unmet needs for Dravet Syndrome (DS) in Spain, and propose actions that could contribute to meeting key healthcare (HC) objectives from the Spanish National Strategy for Rare Diseases (RRDD). Literature review from international (i.e. Pubmed, Google Scholar and Cochrane) and national (i.e. Medes) sources. Information obtained was complemented and validated through interviews with 8 Spanish experts in DS management and later used to establish a two round-consultation Delphi study including 19 specialists (9 neuro-paediatricians, 9 neurologists/epileptologists and 1 primary care physician) from 17 different centres spread across 7 regions. Validation of results via an Advisory Board meeting including 10 specialists (7 neuro-paediatricians and 3 neurologists/epileptologists) in DS in Spain. Key needs for DS in Spain were identified as: 1) Robust epidemiological data; 2) Consensus for patient diagnosis and management; 3) Training of HC professionals; 4) Agility for genetic testing; 5) Better disease awareness; 6) Disease continuum management (paediatric to adulthood) and 7) Availability of more effective treatments. Actions were proposed, including: 1) Performing an epidemiological study; 2) Generate a national consensus later incorporated at regional and hospital level; 3) Establish a validated training programme for PC and ER paediatricians to improve prognosis and outcomes; 4) Revisit timely access to and results from genetic testing; 5) Develop a disease severity model including quality of life aspects; 6) Impulse a best practice framework for patient derivation and 7) Continue efforts in development, approval and timely access to new treatments. Identified priorities are fully aligned with the 7 strategic lines within the Spanish NHS Strategic Plan for RRDD. Execution of proposed actions by DS experts can effectively contribute to the achievement of specific objectives identified in the RRDD Strategy Follow-up Report, all of which have been reported as “initiated” or “partially completed” to date.