Clinical Consultations™: Streamlining the Pathway From Diagnosis to Treatment in Patients With MPS 1

Target Audience
This educational activity is directed toward health care professionals who regularly manage mucopolysaccharidosis type 1 (MPS 1), including pediatricians, geneticists, and specialists in rare genetic disorders.

Program Overview
The irreversible nature of the symptoms and ailments caused by mucopolysaccharidosis type 1 (MPS 1) increases the need for timely, accurate diagnosis and early treatment intervention. However, the clinical heterogeneity of MPS 1 means that symptoms can be nonspecific and nonfocal. This can delay the correct diagnosis, while tissue damage continues to accumulate. Diagnosis is fairly straightforward once MPS 1 is included in the differential diagnosis. Historically, treatment of MPS 1 was restricted to palliative and symptom-based interventions, but newer enzyme replacement therapy (ERT) is able to greatly slow the accumulation of mucopolysaccharides and subsequent tissue damage. Earlier diagnosis and implementation of ERT results in better outcomes for patients.

During this Clinical Consultations™, 2 expert faculty will review the symptoms and signs of MPS 1 and the diagnostic tools used to make a correct diagnosis. They will then discuss the latest evidence regarding treatment for MPS 1 and the importance of a multispecialty approach to managing patients with this disease.

Learning Objectives
Upon completion of this activity, participants should be better able to:

Outline the epidemiology, prevalence, and pathophysiology of MPS 1
Describe clinical presentation and initiate appropriate assessments to confirm accurate MPS 1 diagnosis
Review current and emerging therapies in the treatment of patients with MPS 1
Discuss strategies to improve treatment outcomes in patients with MPS 1