Search

Abstract Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that impair degradation of glycosaminoglycans (GAG). The specific GAGs that accumulate depend on the type of MPS, leading to unique characteristic clinical features. Development of guidelines for treatment of MPS has traditionally been multifaceted and largely based on palliative care. In the last three decades, hematopoietic stem cell transplantation and enzyme replacement therapy have been developed based on experimental and clinical studies. Guidelines have been established with the accumulation of the clinical data from natural history of the disease and therapeutic consequences, mainly sponsored by pharmaceutical companies. In recent years, committees in three countries, Australia (2015), Japan (2017), and Brazil (2018) have adopted guidelines for the treatment of MPS II, sponsored and authorized by each government. As novel treatments for MPS including substrate reduction therapy, pharmacological chaperone therapy, and gene therapy become clinically available, it is increasingly necessary to establish the optimal guideline for each type of MPS, considering multiple factors including therapeutic efficacy, adverse effects, age, disease stage, prognosis, feasibility and availability of access to treatment, and cost- performance. In this article, we discuss the historical guidelines for specific MPS types and the most recently adopted guidelines for MPS II and propose the development of future guidelines without conflict of interest and bias leading to mutual benefits to all parties including patients and families, professionals, tax payers, and governments. Highlights 2 2 Historical treatment of MPS disorders relies on palliative, symptom-based clinical therapy. Shunji Tomatsu is a Principal Investigator for this project and has contributed to the concept and planning of the project, interpretation of published data, and reporting of the work described • Development of new therapies including ERT, HSCT, and surgical procedures provides an opportunity for a better quality of life. • Preemptive treatment requires the development of disease specific guidelines • Development of guidelines for treatment of rare diseases should involve international participation of specialists from multiple fields • Development of guidelines without bias should be sponsored by nonprofit organizations and/or governmental agencies. [ABSTRACT FROM AUTHOR]