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.

IV型粘脂沉积症（MLIV）是一种常染色体隐性遗传疾病，其典型特征是严重的 在生命的第一年结束时，精神发育迟滞明显， 第一个十年是由于角膜混浊和视网膜变性的结合。我们将评估 在5年内，每年在多达10名MLIV患者中观察疾病的自然史。我们假设， 观察期内患者神经功能和结构会有小幅下降， MLIV.本研究的主要结果指标是患有神经功能缺损的患者的神经认知特征。 MLIV和MLIV患者的脑结构特征，特别是脑体积， 弥散张量成像本研究中的评价工具将包括MRI、适合年龄的 神经认知功能、脑电图、吞咽研究、物理治疗和营养。