Integrating a Rare Disease into Practice: Development of a Toolkit for Systemic Mastocytosis.

Abstract

Systemic mastocytosis (SM) exemplifies the diagnostic and management challenges associated with rare diseases, which often involve prolonged time to diagnosis, limited access to clinical experts, and persistent symptom burden. Advanced practitioners (APs) are increasingly responsible for the care of patients with rare and classical hematologic disorders. The Advanced Practitioner Society for Hematology and Oncology (APSHO) convened a multidisciplinary, AP-led steering committee to evaluate the AP role in managing SM, develop an online toolkit, and design surveys to identify best practices, unmet needs, and practical strategies for improving care for patients living with indolent systemic mastocytosis (ISM). The toolkit emphasizes early symptom recognition, integration of validated patient-reported outcome measures, and incorporation of disease-specific tools into clinical workflows and electronic medical records (EMRs). The emergence of targeted therapies, such as avapritinib for both advanced and indolent SM, has further highlighted the need for AP education on novel disease mechanisms and treatment strategies. This project demonstrates a replicable model for developing educational and clinical resources to support APs in managing rare diseases and improving patient-centered care.