Clinical and Laboratory Investigations of Glycoprotein Storage Disorders (Cathey)

糖蛋白增多症是溶酶体疾病中最罕见和研究最少的疾病之一。这些疾病包括天冬氨酸氨基葡萄糖尿症、岩藻糖苷症、乳糖症、α-甘露糖症、β-甘露糖症、粘脂病II、粘脂病III、辛德勒病和唾液酸病。需要对这些情况进行纵向研究，以便更好地确定疾病发生率，确定有助于早期诊断的临床特征，详细说明疾病的进展，评估目前使用的支持性治疗的疗效，并确定潜在的治疗方法。关于这些进行性的、缩短生命的疾病的大多数已发表的临床信息是以孤立病例报告的形式发表的。建立疾病队列将使人们能够识别疾病谱的共同特征或亚群特有的特征。对病程的了解和建立基因-表型相关性是测试和治疗进展的基础。该项目旨在允许受这些罕见疾病影响的个人提供临床信息，包括实验室和成像研究，作为其标准持续医疗护理的一部分。直接临床评估将由项目人员进行，并在可能的情况下每半年进行一次。项目人员将与其他临床中心合作，协助对患者进行临床评估。

The glycoproteinoses are among the most rare and least researched of the lysosomal diseases. The diseases include aspartylglucosaminuria, fucosidosis, galactosialidosis, alpha-mannosidosis, betamannosidosis, mucolipidosis II, mucolipidosis III, Schindler disease, and sialidosis. Longitudinal studies of these conditions are needed in order to better define the disease incidences, identify clinical features which could contribute to early diagnoses, detail progression of the diseases, assess efficacy of supportive therapies currently used, and identify potential treatments. The majority of published clinical information about these progressive, life-shortening conditions is in the form of isolated case reports. Establishing disease cohorts will allow recognition of features common to the disease spectrum or unique to subpopulations. Knowledge of disease course and establishment of genotype-phenotype correlations are fundamental to progress in testing and therapies. The project is designed to allow individuals affected with these rare diseases to contribute clinical information, including laboratory and imaging studies, obtained as part of their standard continuing medical care. Direct clinical evaluations will be performed by project personnel and repeated on a semi-annual basis when possible. Project personnel will collaborate with other clinical centers to provide assistance with clinical evaluations of patients.