Rare Disease Report

Hunter Syndrome The Documentary Series

MAY 15, 2017
James Radke

On May 15th, Project Alive posted the first episode of the ongoing documentary series to recognize International MPS Awareness Day.

Each following episode will provide the audience with a glimpse into the lives of families dealing with Hunter syndrome (mucopolysaccharide II or MPS II). The goal of the series is to raise awareness of Hunter syndrome, as well as the need for a gene therapy for the lysosomal storage disorder.

In Hunter syndrome, patients are missing the iduronate sulfatase enzyme, resulting in an accumulation of dermatan and heparan sulphate. Common symptoms may 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.

There is currently an approved enzyme replacement therapy for the condition [Elaprase (idursulfase)], but it is widely believed that gene therapy is necessary so that the persons can make their own iduronate sulfatase throughout the body.

Enter Project Alive, whose initiative is to fund until a gene therapy gets into clinical studies.

The trailer of the series is below, and those interested can visit projectalive.org to see the first episode. Future episodes will be uploaded every 2-3 weeks. 

The First Episode

The first episode introduces us to Sebastian. He is a cute little boy with Hunter syndrome and as his parents explain, “money should lever stop us from saving a child, any child”.
According to the family, gene therapy is the only hope they have for a cure to this progressive disease. Sebastian’s mother said, “the doctors think they have a cure and the only thing stopping that is funding.”
Project Alive hopes to raise the $2.5 million needed to fund the gene therapy clinical trials.

Why Gene Therapy?

In 2013, a group of Hunter Syndrome families partnered with researchers at Nationwide Children’s Hospital in Columbus, Ohio to begin gene therapy research in Hunter Syndrome.
The researchers are now ready to begin their first gene therapy clinical trial for boys with Hunter Syndrome but they need more funds to make sure it can be properly conducted and completed.
A video discussing gene therapy for Hunter syndrome is shown below:

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