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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Clinical Characteristics and Management of Patient ...
Clinical Characteristics and Management of Patients with Mucopolysaccharidosis II (MPS II) in the United States from the Hunter Outcome Survey
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Pdf Summary
Mucopolysaccharidosis II (MPS II), also known as Hunter syndrome, is a rare and life-limiting lysosomal storage disease caused by deficient iduronate-2-sulfatase activity. Enzyme replacement therapy (ERT) with intravenous recombinant idursulfase is the standard of care for MPS II and can improve clinical parameters and prolong survival. The Hunter Outcome Survey (HOS) is a global observational registry that collects real-world data on the natural history of MPS II and ERT. In the United States, 321 patients from 41 sites were enrolled in the HOS. The majority of patients were male, and White was the most common ethnicity. Over a quarter of patients had a family history of MPS II. Cognitive impairment after the age of 5 years was reported in 43.2% of patients, with varying levels of severity. The most common organ system abnormalities associated with MPS II included coarse facial features, joint stiffness and limited function, hearing loss, hepatomegaly, and hernia. Chronic otitis media was the earliest presenting sign of MPS II, with coarse facial features and hernia also typically appearing before the age of 3. ERT was initiated in patients between the ages of 3 and 12 years, with 14.7% starting treatment before the age of 18 months. The most common surgical procedure performed was port-a-cath placement or replacement. Of the reported deaths, respiratory failure was the most common cause. These findings provide valuable insights into the clinical characteristics and management of MPS II in the United States, highlighting the need for early diagnosis and intervention.
Asset Subtitle
Presenting Author - Barbara K. Burton, MD; Co-Author - Can Ficicioglu, MD PhD; Co-Author - Helio Pedro, MD; Co-Author - Ravi Pathak, PhD, MBA; Co-Author - Ian Robinson, MPH; Co-Author - Ekaterina Wright, MD; Co-Author - Joseph Muenzer, MD PhD;
Meta Tag
Enzyme Replacement Therapy
Lysosomal Diseases
Metabolic Disorder
Therapy
Co-Author
Can Ficicioglu, MD PhD
Co-Author
Helio Pedro, MD
Co-Author
Ravi Pathak, PhD, MBA
Co-Author
Ian Robinson, MPH
Co-Author
Ekaterina Wright, MD
Co-Author
Joseph Muenzer, MD PhD
Presenting Author
Barbara K. Burton, MD
Keywords
Mucopolysaccharidosis II
Hunter syndrome
lysosomal storage disease
iduronate-2-sulfatase
enzyme replacement therapy
recombinant idursulfase
Hunter Outcome Survey
cognitive impairment
organ system abnormalities
respiratory failure
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