Mucopolysaccharidoses: Models for Rare Diseases and Innovative Therapies

Mucopolysaccharidoses are a group of rare, life-threatening diseases, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. So far many disease manifestations (like CNS and bone involvement) cannot be successfully treated, but innovative treatment approaches are in development. Above this, the multisystem pathology of MPS demands highly functional multi-professional teams. Yet the awareness and preparedness for the specific needs and risks of MPS patients in many parts of our health systems are low. This causes a substantial risk for patient harm. Thus we have developed a MPS specific simulation training to prepare multi-professional MPS teams, their leaders and members for relevant clinical challenges. The presentation will provide an overview on these innovative strategies to improve treatability and management of MPS patients and discuss how they may be used as a model for other diseases.