http://www.raredr.com/videos/hunter-syndrome-mps-ii
Hunter Syndrome (MPS II)




Melissa Hogan is founder of Saving Case, a patient advocacy group organized to help raise awareness of Hunter Syndrome and to help empower all rare disease advocates to get involved in the drug development process.

She frequently speaks about issues affecting rare disease families, discussing topics such as advocacy, social media, medical research, pharma, clinical trials, and special education. She receives extraordinary reviews from audiences varying from patient families to pharma executives to health care organizations.

In this interview, Ms Hogan provides an overview of Hunter syndrome and the origins of Saving Case.

Hunter syndrome [mucopolysaccharidosis type II (MPS II)] is a lysosomal storage disease that almost exclusively affects young males. Boys with MPS II are deficient in the enzyme iduronate-2-sulfatase that helps breakdown glycosaminoglycans (GAG). The net result is that GAG builds up in cells and organs throughout the body. That build up can lead to a plethora of symptoms although in the more severe cases, the physical features of the condition (stunted growth, course facial features, stiff joints, intellectual disability) are fairly uniform and can begin around age 2-4 years of age. The severe form often includes progressive cognitive impairment and a life span of approximately 12-15 years old. In more mild forms, the condition may go undiagnosed for many years as it does not feature intellectual impairment or regression.

Common Symptoms/Features
    Stunted growth
    Coarse facial features
    Intelligence impaired in more severe forms
    Hearing loss
    Joint stiffness
    Carpal tunnel syndrome
    Sleep apnea
    Poor peripheral vision
    Thickening of the heart valves
    Obstructive airway disease
    Enlarged liver and spleen.

Treatment
Enzyme replacement therapy with Elaprase®  (idursulfase) is the only orphan treatment currently approved for Hunter syndrome in the United States. Another enzyme replacement therapy called Hunterase® (idursulfase-beta) is approved in South Korea. Elaprase can improve many aspects of the patients quality of life (eg, improved lung function, endurance) but it is not a cure for the disease. Also, the current formulation for Elaprase does not cross the blood brain barrier so it cannot help children with intellectual impairments. Studies with intrathecal preparation are currently in development.

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