The Natural History of Mucolipidosis Type IV

IV 型粘脂沉积症的自然史

• 批准号: 8934171
• 负责人: Raphael Schiffmann
• 金额: $ 3.92万
• 依托单位: UNIVERSITY OF MINNESOTA
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8934171
• 关键词: Age; Brain; Characteristics; Clinical Trials; Cornea; Deglutition; Diffusion Magnetic Resonance Imaging; Disease; Electroencephalography; Family; Future; Ganglioside Sialidase Deficiency Disease; Inborn Genetic Diseases; Instruction; Integral Membrane Protein; Intracellular Membranes; Life; Magnetic Resonance Imaging; Measures; Membrane Protein Traffic; Natural History; Nervous System Physiology; Neurocognitive; Outcome Measure; Patients; Physical therapy; Retinal Degeneration; Structure; Therapeutic Clinical Trial; Time; Visual impairment; brain volume; cell type; design; disease natural history; nutrition; receptor; tool

Mucolipidosis type IV (MLIV) is an autosomal recessive disorder typically characterized by severe psychomotor delay evident by the end of the first year of life and slowly progressive visual impairment during the first decade as a result of a combination of corneal clouding and retinal degeneration. We will evaluate the natural history of the disease yearly in up to 10 MLIV patients over 5 years. We hypothesize that over the period of observation there will be a small decline in neurological function and structure in patients with MLIV. The main outcome measures in this study will be the neurocognitive characteristics of patients with MLIV and the structural brain characteristics of patients with MLIV and in particular brain volume and diffusion tensor imaging. The evaluative tools in this study will include MRI, age appropriate measures of neurocognitive function, EEG, swallow studies, physical therapy and nutrition.

粘脂脂异常IV型（MLIV）是一种常染色体隐性疾病，通常以严重为特征 精神运动延迟在生命的第一年结束时明显明显 角膜云和视网膜变性的结合是头十年。我们将评估 该疾病的自然历史每年在5年内最多10名MLIV患者。我们假设这是 观察期 MLIV。这项研究的主要结果指标将是患者的神经认知特征 MLIV和MLIV患者尤其是大脑体积和 扩散张量成像。本研究中的评估工具将包括MRI，适当的年龄措施 神经认知功能，脑电图，吞咽研究，物理疗法和营养。