Evaluating Strategies to Improve the Recognition and Management of Mucopolysaccharoidosis Type 1

Target Audience
This activity is intended for pediatricians, family medicine providers, genetic counselors, ear/nose/throat specialists (ENTs), ophthalmologists, cardiologists, orthopedists, rheumatologists, neurologists, and pulmonologists/respiratologists other healthcare providers who manage patients with MPS I.

Program Overview
This activity will offer opportunities to review symptoms and clinical manifestations of MPS I, and discuss practical approaches for screening and accurate disease diagnosis. Faculty will examine the latest evidence on current and emerging treatment options and evaluate their implications for clinical practice and patient care. Furthermore, discussions will assess strategies and best practices for implementing successful multidisciplinary management and collaborative care for patients with MPS I, including effective patient/caregiver advocacy and education.

Learning Objectives
Upon completion of this activity, the learner should be able to::

Identify symptoms and clinical manifestations associated with Mucopolysaccharidosis type I (MPS I), considering multiple organ systems, time of onset, and disease heterogeneity
Describe the appropriate steps to differentially diagnose attenuated and severe MPS I, including the role of newborn screening/utilization of genetic testing, and referrals to specialists and genetic counselors
Explain the clinical roles of enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) and in the treatment of attenuated and severe MPS I
Propose multidisciplinary, care-coordination strategies to alleviate and manage the diverse spectrum of symptoms associated with MPS I
Recognize resources and strategies to provide education and support to individuals with MPSI and their families, including genetic counseling