ASYMPTOMATIC METACHROMATIC LEUKODYSTROPHY SCREENING

无症状异染性脑白质营养不良筛查

• 批准号: 2039189
• 负责人: M D ULLMAN
• 金额: $ 10万
• 依托单位: QUALITY CONTROLLED BIOCHEMICALS, INC.
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-06-06 至 1998-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/2039189
• 关键词: analytical chemistry; biomedical automation; brain disorder diagnosis; cerebrosides; clinical chemistry; creatinine; diagnosis design /evaluation; early diagnosis; fast atom bombardment mass spectrometry; inborn metabolism disorder diagnosis; metachromatic leukodystrophy; method development; urinalysis

DESCRIPTION: (Adapted from the applicant's abstract) Asymptomatic infants who are destined to die from metachromatic leukodystrophy (MLD), can be identified by urine positive for sulfatides. When detected early in life, bone marrow transplantation can provide, according to initial data, an effective, perhaps curative, treatment. Urine sulfatides of MLD patients are characteristic of this disease. Detection of sulfatides can be accomplished by using urine-soaked filter paper, a collection method used for mass screening of other diseases. Sulfatides from filter papers can be extracted and quantified by Continuous Flow-Fast Atom Bombardment- Mass Spectrometry and potentially, by electrospray/MS/MS. The Phase I grant will develop the process of extraction and quantification so that mass screening will be feasible. Three steps are planned: 1. Optimize conditions of the extraction of sulfatide and creatinine from urine-soaked filter papers. 2.Optimize conditions for the analysis of sulfatide by mass spectrometry. 3.Interface and automate the extraction and mass spectrometry methods. Phase II will involve screening of 75,000 specimens already collected and available. Phase III will screen 500,000 samples a year at specific sites. Introduction into several state departments of health procedures for screening will follow in the ensuing years, with payment derived from third party providers and state revenues.

描述：（改编自申请人摘要）无症状 注定死于异染性脑白质营养不良的婴儿 (MLD)可以通过尿硫苷脂阳性来鉴定。 当 在生命早期发现，骨髓移植可以提供， 根据最初的数据，一种有效的，也许是治愈的， 治疗 MLD患者的尿硫苷脂具有以下特征： 这种疾病。 硫苷脂的检测可以通过使用 尿浸滤纸，一种用于大规模收集的方法， 筛查其他疾病。 滤纸中的硫酸盐可以 通过连续流动-快速原子轰击- 质谱法和潜在地通过电喷雾/MS/MS。 第一阶段赠款将开发提取过程， 量化，以便大规模筛查可行。 三 计划采取的步骤： 1. 优化了硫苷脂的提取条件， 尿浸过的滤纸上的肌酸酐 2.硫苷脂质量分析条件的优化 光谱法 3.接口和自动化提取和质谱分析 方法. 第二阶段将筛选75，000个样本 已经收集和可用。 第三阶段将筛选50万人 每年在特定地点取样。 进入多个国家 卫生署将按照 随后的几年，来自第三方供应商的付款， 国家收入。