Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is caused by a deficiency of iduronate-2-sulfatase (IDS) leading to an accumulation of glycosaminoglycans (GAGs) in tissues of MPS II patients, resulting in characteristic storage lesions and diverse disease sequelae, and in patients with the more severe form of the disease, irreversible neurocognitive decline and higher morbidity and mortality than in patients with the attenuated form of the disease. There is currently limited information on the natural history of MPS II, especially with respect to neurocognitive decline in patients with the more severe form of the disease. This study is planned to be an observational medical records review study (data collected retrospectively and no investigational product treatment or procedures) in subjects with the severe form of MPS II. Collectively, the data may inform the design of future MPS II gene therapy treatment studies and may be utilized as historical comparative control data.
Study Type
OBSERVATIONAL
Enrollment
36
Children's Hospital of Pittsburgh - UPMC: Program for Neurodevelopment in Rare Disorders
Pittsburgh, Pennsylvania, United States
Hospital de Clinicas de Porto Alegre
Porto Alegre, Rio Grande do Sul, Brazil
Manchester Centre for Genomic Medicine
Manchester, United Kingdom
Cognitive function over time, as indicated by results of neurocognitive measures documented in medical chart.
There are 10 neurocognitive measures that provide intelligence quotients (IQ) scores and/or developmental quotients (DQ) scores.
Time frame: Up to 10 years old
Prevalence of general organ involvement and specific characteristics of severe MPS II as documented in medical chart.
Documentation in medical chart regarding date and age of onset of: Disease Characteristics, General Appearance, Neurologic/Psychiatric, Cardiovascular, Ocular, Musculoskeletal, Auditory, Respiratory, Gastroenterology/Urinary, Interventional Medications, Other Interventions, ER and Hospitalization History, MRI History, ECG History
Time frame: Up to 10 years old
Age of onset of general organ involvement and specific characteristics of severe MPS II as documented in medical chart.
Documentation in medical chart regarding date and age of onset of: Disease Characteristics, General Appearance, Neurologic/Psychiatric, Cardiovascular, Ocular, Musculoskeletal, Auditory, Respiratory, Gastroenterology/Urinary, Interventional Medications, Other Interventions, ER and Hospitalization History, MRI History, ECG History
Time frame: Up to 10 years old
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