OBJECTIVES: To ascertain the current care pathway, identifying unmet needs, challenges and opportunities in the management of APDS, an ultra-rare inborn error of immunity, in Spain. Propose an actionable roadmap to improve patients’ care and health outcomes.

METHODS: Literature review from international and national sources. Information obtained complemented and validated through individual interviews with a multidisciplinary panel of 12 Spanish experts including 3 clinicians, 3 hospital pharmacists, 2 primary care physicians, 2 hospital managers ,1 nurse and 1 patients’ representative from 10 different centres spread across 6 regions. Discussion of results and consensus via an Advisory Board meeting.

RESULTS: A roadmap was proposed by the experts including solutions and potential lines of action to address the main gaps identified in APDS management to improve patients’ diagnosis, short-term follow-up, long-term follow-up and quality of life in Spain. Key challenges affecting patient outcomes were identified: lack of neonatal screening programs, limited awareness/training of primary care resulting in delayed diagnosis, lack of guidelines/protocols resulting in heterogenicity of approaches across centres, lack of a disease modifying treatment. Recommendations from the experts included: disease training and development artificial intelligence tools for primary care could contribute to earlier suspicion and referral for final diagnosis. Generation of protocols/guidelines derived from the proposed pathway could help standardise management, from diagnosis to long-term, ensuring best evidence-based practices improving clinical outcomes. Experts recommended implementation of multidisciplinary teams, and the inclusion of patient perspective as key elements to improve clinical management.

CONCLUSIONS: APDS is an ultra-rare complex disease. This project identified key challenges linked to patient management across the healthcare system in Spain, defined the patient pathway and made recommendations for its practical implementation. Execution of proposed actions within Spanish hospitals could effectively contribute to the achievement of key clinical objectives and positively impact health outcomes for APDS patients in Spain.