Rare Disease Report

Project Alive Premiers Episode 2 in Hunter Syndrome Awareness Series

JUNE 16, 2017
Mathew Shanley
On May 15th, RDR recognized International Mucopolysaccharidoses (MPS) Awareness Day by writing about the first episode in Project Alive’s ongoing documentary series about MPS II.
MPS II – or Hunter Syndrome – patients lack the enzyme iduronate sulfatase and because of this, dermatan and heparan sulphate accumulates throughout the body, leading to serious complications including developmental delays and mental impairment.
Today, Project Alive, developed by the nonprofit corporation Saving Case & Friends, Inc. (SC&F), premiered their second episode. The objective of the series is to raise awareness for the disease, as well as the need for a gene therapy for the lysosomal storage disorder. Episode 2 focuses on Noah, a vibrant personality whose laugh brings joy wherever he goes.
His parents, Krystal and Aywon, have been reveling in every moment with their son before the effects of Hunter Syndrome start to show. The video is designed for parents to keep in mind that, while the journey of an Hunter syndrome caregiver is a difficult one, each moment with their child should be embraced.
Typical symptoms of Hunter syndrome can vary, but typically include stunted growth, coarse facial features, hearing loss, joint stiffness, sleep apnea, thickening of heart valves, obstructive airways, enlarged liver and spleen, and cognitive impairment.
At present, Elaprase (idursulfase), an enzyme replacement therapy, is approved for the condition, but many experts believe that an in development gene therapy is likely a better option to help patients generate iduronate sulfatase throughout the body.
Episode 2 is below, and new episodes premier every 2-3 weeks.

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