Updates in care and improving the healthcare experience of patients with mucopolysaccharidosis I (MPS I)

Details

Activity Description / Statement of Need:

In this online, self-learning activity:

Mucopolysaccharidoses (MPS) are a group of genetic diseases characterized by a deficiency of lysosomal enzymes responsible for the hydrolysis of glycosaminoglycans (GAGs), resulting in a variety of clinical manifestations in patients presenting with MPS. MPS has several subcategories, and MPS type I (MPS I) arises from the inheritance of an alteration in the IDUA gene, which encodes for alpha-L-iduronidase. Affecting an estimated one in 100,000 live births, MPS I is categorized as either attenuated MPS I (also known as Scheie or Hurler-Scheie syndromes) or severe MPS I with cognitive impairment (also known as Hurler syndrome).

Progressive in nature, MPS I is associated with multi-organ complications and sequelae. Patients exhibit a spectrum of clinical presentations, including facial deformities, organomegaly, cognitive impairments, upper airway obstructions, skeletal deformities, and cardiomyopathy. The burden of MPS I is considerable, with reports of caregivers contributing 51 hours per week on average to help patients perform daily activities of living. Quality of life for patients and their caregivers is significantly reduced with MPS I, affecting the social, emotional, and financial well-being of a family. It is reported that parents fear for their child’s delayed language acquisition, ability to fit in amongst peers and the society, fear of the expense for the necessary care, and fear for the death of a child from obstructive sleep apnea.

This learning activity has been designed to bring HCPs’ knowledge of the strategies for treatment and management of MPS I up to date and to improve their competence and performance in treating it.

Target Audience:

The following HCPs: Pediatricians, neurologists, endocrinologists, genetic disease specialists; physician assistants, nurse practitioners, and pharmacists in the aforementioned areas of specialty; and any other HCPs with an interest in or who may clinically encounter patients with MPS I.