Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 19
- 试验地点
- 3
- 主要终点
- Change in Health Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years
研究概览
简要总结
Hypothesis: Children diagnosed with a lysosomal disease will exhibit developmental, adaptive, and behavioral strengths and difficulties depending upon 1) biomedical risk factors (i.e. the specific genetic disorder responsible for the illness); 2) available modifying interventions, whether medical or behavioral; and 3) social risks in the children's families, neighborhoods and communities. A valid and reliable telephone-based surveillance system can successfully collect the data required to elucidate these developmental, adaptive and behavioral strengths and difficulties.
详细描述
Children who have lysosomal disease experience declines in health status and central nervous system integrity which result in motor, communication, self-care, learning and behavioral challenges. Medical interventions such as enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation can improve the health and functioning of children with lysosomal disease. To date, however, there is no established system for evaluating the health status, developmental status, behavioral outcomes or functional outcomes of these preschool-aged children across time and differing settings. The primary objective of this study is to develop a valid and reliable telephone-based data-gathering system for obtaining health status data, developmental status data, behavioral outcomes data, and functional outcomes data which reflect skills of daily living including feeding, moving, communicating and responding to others.
The secondary objective of this study is to assess the validity of several early-childhood standardized assessment tools as compared to the standard neuropsychological assessment battery specified by the Lysosomal Disease Network's 'Neurobehavioral Core.'
The third objective of this study is to describe the impact of lysosomal disease upon the families of lysosomal disease-affected children.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 1 Day 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Children aged 1 to 84 months who have been diagnosed with MPS types I, II, III or VI. Children aged 1 to 84 months who have been diagnosed with some other lysosomal disease. Children aged birth to 18 years who have been diagnosed with Krabbe disease, or who have a positive screening for Krabbe disease.
排除标准
- •Children who do not have a lysosomal disease are excluded from this study.
结局指标
主要结局
Change in Health Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years
时间窗: Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment
Using the technique of telephone-based interviews with the child's care-giver(s), the investigators will obtain and record verbal responses to a variety of standardized assessment tools which seek to ascertain the lysosomal disease-affected child's health status.
次要结局
- Change in the Behavioral Outcomes of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years(Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment)
- Change in Behavioral Outcomes of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years(Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment)
- Change in Functional Outcomes of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years(Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment)
- Change in the Functional Outcomes of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years(Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment)
- Change in Developmental Status of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years(Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment)
- Change in the Well-Being of the Immediate Family of the Lysosomal Disease-Affected Child Measured at 6-month Intervals for 5.5 Years(Upon Enrollment, and thereafter at 6, 12, 18, 24, 30, 36, 42, 48, 54, 60 and 66 months post-enrollment)