Cases and Conversations: The Importance of Newborn Screening for MPS1 – How Can We Optimize Patient Outcomes From the Beginning?

Target Audience
This educational activity is directed toward health care professionals who regularly manage MPS I, including pediatricians, geneticists, and specialists in rare genetic disorders.

Activity Overview
This online, on-demand virtual symposium brings together renowned experts in metabolic diseases to discuss mucopolysaccharidosis type I (MPS I). MPS I is a rare autosomal recessive disorder, characterized by a deficiency of α-L-iduronidase (IDUA), which results in the accumulation of the glycosaminoglycans (GAGs) dermatan and heparan sulfate in cells throughout the body. Clinical heterogeneity of MPS I is evident by the fact that symptoms can be nonspecific and may be associated with various rheumatological disorders. The irreversible nature of the symptoms and ailments caused by the accumulation and excess storage of GAGs highlights the need for timely, accurate diagnosis and early treatment intervention.

Most physicians do not have extensive knowledge or clinical experience in managing this rare disease, and their lack of experience can increase the risk of poor outcomes for patients. In this program, a panel of experts discusses the diagnosis and management of MPS 1, guided by case studies to highlight practical application.

This educational activity is an archive of the live virtual symposium held on April 15, 2021.

Learning Objectives
Upon successful completion of this activity, you should be better prepared to:

Describe the pathophysiology of MPS I
Select appropriate assessments to confirm an MPS I diagnosis based on screening results
Analyze current and emerging therapies for the treatment of patients with MPS I
Apply patient-centered approaches toward the management of patients with MPS I