Real-World Perspective on Daily Challenges of Living With MPS II

Описание: Kristin McKay, President and Executive Director of Project Alive, discusses the real-world perspective on daily challenges of living with mucopolysaccharides II (MPS II).

MPS II is an inherited disorder of carbohydrate metabolism that occurs almost exclusively in males. It is caused by genetic changes in the IDS gene, leading to the accumulation of glycosaminoglycans (GAG), causing cellular dysfunction. Signs and symptoms include distinctive facial features, a large head, hydrocephalus, hepatosplenomegaly, umbilical or inguinal hernia, and hearing loss. Individuals with this condition may additionally have joint deformities and heart abnormalities involving the valves.

The objective of this study was to gather real-world perspectives on the daily challenges of living with MPS II, current treatment and care, and priorities for emerging treatments. This online, sponsor-unblinded survey was created in partnership with the MPS II advocacy and patient community, and included US families. The survey focused on quality of life, unmet needs, and treatment experience of patients with MPS II and their caregivers.

A total of 25 complete and 22 partial responses were collected from individuals who opened the survey. Caregivers made up 91.3% of respondents. The mean age of affected individuals was 12.5 years and 68.2% had neuronopathic MPS II (nMPS II).

Families living with nMPS II reported many burdensome symptoms affecting quality of life, including independent toileting, speech difficulties, and cognitive abilities. For non-neuronopathic MPS II, burdensome symptoms included hearing difficulties, cognitive abilities, and stiffness/reduced physical stamina. Results illustrated that these families mainly source information from patient advocacy websites and peer-to-peer communications, but 43.8% desire further information.

Of those receiving standard-of-care enzyme replacement therapy (ERT), 84.2% either excited that it does not manage the disease or acknowledged room for improvement. Non-medical ERT challenges included logistics with medical care and weekly infusions. 84% of respondents were aware of investigational treatments in development. When considering switching to new therapies, cognition and physical health improvements were key drivers.

CHAPTERS
Introduction 00:00
Project Alive 00:52
Ongoing Research 1:47
Real-World Perspective on Daily Challenges 2:37
Unmet Needs 5:48
Treatment Experiences 7:24
Take Home Message 8:14