ASYMPTOMATIC METACHROMATIC LEUKODYSTROPHY SCREENING

无症状婴儿注定死于异染性 脑白质营养不良（MLD）可以通过尿硫苷脂阳性来鉴定。 当在生命早期发现时，骨髓移植可以提供， 根据最初的数据，这是一种有效的，也许是治愈性的治疗方法。 MLD患者的尿硫苷脂升高是其特征 疾病硫苷脂的检测可以通过使用尿浸泡的 滤纸，一种用于大规模筛选其他 疾病来自滤纸的硫酸酯可以通过以下方法提取和定量： 电喷雾离子化质谱第二阶段项目将：1。 进行半自动尿硫苷脂和鞘磷脂分析， 10，000张先前通过电喷雾收集的尿液浸泡滤纸 电离质谱法，以a）建立和验证一个鲁棒的 异染性脑白质营养不良筛查的方法和B）假估计 正频率，2。识别MLD尿液和发生 可能的假阴性频率，并证明商业 通过进行半自动化MLD筛选方法的适用性 尿硫苷脂和鞘磷脂分析-10万例既往 收集的尿浸滤纸，3.提高方法效率， 测试技术和设计的新进步。 拟定商业应用： 6个月大婴儿异染性脑白质营养不良的筛查方法 将被开发。在继续证明 从骨髓中筛选方法和正强化 移植后，接受筛查的婴儿数量可能会增加， 每年几百万。这项研究的商业应用 然后将通过许可、合资或测试来实现 成本加利润

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. Elevated 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 electrospray ionization mass spectrometry. This Phase II project will: 1. perform semi-automated urinary sulfatide and sphingomyelin analysis of 10,000 previously collected urine-soaked filter papers by electrospray ionization mass spectrometry to a) establish and validate a robust procedure for metachromatic leukodystrophy screening and b) estimate false positive frequency, and to 2. identify MLD urines and the occurrence of possible false negative frequency, and to demonstrate the commercial applicability of the method of MLD screening by performing semi-automated urinary sulfatide and sphingomyelin analysis of - 100,000 previously collected urine-soaked filter paper, 3. improve on method efficiency by testing new advancements in technology and design. PROPOSED COMMERCIAL APPLICATION: A method of screening 6-month-old infants for metachromatic leukodystrophy will be developed. Subsequent to continued proof of validity of the screening method and positive reinforcement from bone marrow transplantation, the number of infants screened will potentially be several million each year. The commercial application of this research will then be realized from either licensing, joint venture, or testing with cost plus profit.