Rare disease monitoring plans: a case study within a clinical decision support system.

Clinical decision support systems (CDSS) have emerged as valuable tools for enhancing healthcare for rare diseases. Nonetheless, most tools focus on diagnosis, while few support patient monitoring. We aim to report the methods to develop an evidence-based CDSS for monitoring rare diseases, using Bardet-Biedl Syndrome (BBS) as a case study. We assembled a multidisciplinary team of over 40 healthcare providers from 11 specialities to develop rare disease monitoring plans. We conducted a scoping review to map the existing literature on BBS monitoring, followed by the systematic development of a plan framework with four sections: a tailored medical record with clinical manifestations, a multidisciplinary appointment schedule, a questionnaire tracker, and a complementary exam tracker. We extracted data from articles, books, guidelines, and point-of-care resources. We included 128 references in the analysis. Common study designs included case reports (37.5%), case series (19.5%), and cohort studies (16.4%). We documented 108 clinical manifestations of BBS across ten body systems. The multidisciplinary appointment schedule identified 24 healthcare professionals essential for BBS follow-up, and primary consultations were recommended with 13 specialities. We identified 28 scales and questionnaires, 8 sets of laboratory analyses, 7 electrophysiological studies, and 6 imaging studies for patient follow-up. Our CDSS provides a structured, evidence-based approach to monitoring BBS and improving patient outcomes. This model can be adapted for other rare diseases, promoting comprehensive and multidisciplinary patient care.