A Retrospective and Cross-sectional Study to Evaluate Neurodevelopmental Status in Pediatric Subjects With Severe Mucopolysaccharidosis Type II (Hunter Syndrome)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 36
- 试验地点
- 3
- 主要终点
- Cognitive function over time, as indicated by results of neurocognitive measures documented in medical chart.
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Retrospective
入排标准
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Documented diagnosis of MPS II confirmed by enzyme activity as measured in plasma, fibroblasts, or leukocytes
- •The subject has at least one of the neurocognitive assessments listed below, which occurred prior to age 6 and in or after 2006 in their medical records.
- •Bayley Scales of Infant and Toddler Development (BSID), any version
- •Differential Ability Scale (DAS), any version
- •Griffiths Mental Development Scale (GMDS), any version
- •Kaufman Assessment Battery for Children (KABC), any version
- •Kinder Infant Development Scale (KIDS)
- •Kyoto Scale of Psychological Development (KSPD), any version
- •Leiter International Performance Scale (LIPS), any version
- •Mullen Scales of Early Learning (MSEL), any version
- •Vineland Adaptive Behavior Scales (VABS), any version
- •Wechsler Intelligence Scale for Children (WISC), any version
- •Wechsler Preschool and Primary Scale of Intelligence (WPPSI), any version
- •If the subject has undergone hematopoietic stem cell transplantation (HSCT), they must have at least one neurocognitive assessment prior to HSCT.
排除标准
- 未提供
结局指标
主要结局
Cognitive function over time, as indicated by results of neurocognitive measures documented in medical chart.
时间窗: Up to 10 years old
There are 10 neurocognitive measures that provide intelligence quotients (IQ) scores and/or developmental quotients (DQ) scores.
次要结局
- Prevalence of general organ involvement and specific characteristics of severe MPS II as documented in medical chart.(Up to 10 years old)
- Age of onset of general organ involvement and specific characteristics of severe MPS II as documented in medical chart.(Up to 10 years old)