Clinical and Laboratory Investigations of Glycoprotein Storage Disorders (Cathey)

糖蛋白病是最罕见和研究最少的溶酶体疾病之一。所述疾病包括乙酰氨基葡萄糖尿症、岩藻糖苷沉积症、半乳糖唾液酸沉积症、α-甘露糖苷沉积症、β-甘露糖苷沉积症、粘脂沉积症II、粘脂沉积症III、辛德勒病和唾液酸沉积症。需要对这些疾病进行纵向研究，以更好地确定疾病的发生率，确定可能有助于早期诊断的临床特征，详细描述疾病的进展，评估目前使用的支持疗法的疗效，并确定潜在的治疗方法。大多数已发表的关于这些进行性、缩短寿命的疾病的临床信息都是孤立病例报告的形式。建立疾病队列将允许识别疾病谱的共同特征或亚群的独特特征。了解疾病过程和建立基因型-表型相关性是检测和治疗进展的基础。该项目旨在允许受这些罕见疾病影响的个人贡献临床信息，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。直接临床评价将由项目人员进行，并在可能的情况下每半年重复一次。项目人员将与其他临床中心合作，为患者的临床评估提供帮助。

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.