AGLU03206 OPEN LABEL EXTENSION OF AGLU02704

AGLU03206 AGLU02704 的开放标签扩展

• 批准号: 7717143
• 负责人: BARRY J BYRNE
• 金额: $ 0.43万
• 依托单位: UNIVERSITY OF FLORIDA
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-12-01 至 2008-11-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7717143
• 关键词: Acids; Age; Binding; Cardiomyopathies; Cessation of life; Childhood; Computer Retrieval of Information on Scientific Projects Database; Deterioration; Disease; Dissociation; Enzymes; Funding; Glycogen; Glycogen storage disease type II; Grant; Institution; Label; Life; Metabolic; Muscle; Muscle function; Myopathy; Organ; Organelles; Pathology; Patients; Pelvis; Range; Rate; Research; Research Personnel; Resources; Respiratory Failure; Respiratory Muscles; Shoulder; Skeletal system; Source; Symptoms; Tissues; United States National Institutes of Health; Ventilator; Wheelchairs; base; experience; glucosidase; infancy; respiratory

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Pompe disease is a rare autosomal recessive metabolic muscle disease caused by the deficiency of acid Q glucosidase an enzyme that degrades lysosomal glycogen. As opposed to the exclusively cytoplasmic accumulation of glycogen that occurs in other glycogen storage disorders, Pompe disease is characterized by organelle bound lysosomal and extra-lysosomal accumulation of glycogen in many body tissues, ultimately leading to multisystemic pathology. Pompe disease is classified into different subtypes based on the age at onset of symptoms, extent of organ involvement, and rate of progression to death. There is a broad spectrum of disease ranging from a rapidly progressive form infantile-onset to a more slowly progressive form late-onset with considerable variability and overlap existing between these extremes. It is important to note that all presentations of Pompe disease share a common underlying pathology; i.e., deficiency of GAA with subsequent accumulation of glycogen. Symptoms appear during childhood or as late as the sixth decade of life. Patients present with progressive myopathy, predominantly of the proximal muscles in the pelvic and shoulder girdles, and a variable progression of respiratory involvement. The patients develop minimal or no cardiomyopathy. The course of late-onset Pompe disease is less predictable than the infantile form, with some patients experiencing a rapid deterioration in skeletal and respiratory muscle function leading to loss of ambulation and respiratory failure, others progressing less rapidly, and others with dissociation in the progression of skeletal and respiratory muscle involvement . Most patients become wheelchair-bound, require ventilator support and ultimately succumb to respiratory failure.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目和 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 庞贝病是一种罕见的常染色体隐性遗传性代谢性肌肉疾病，由酸性 Q 葡萄糖苷酶（一种降解溶酶体糖原的酶）缺乏引起。与其他糖原储存障碍中发生的糖原完全在细胞质中积累相反，庞贝病的特征是许多身体组织中细胞器结合的溶酶体和溶酶体外糖原积累，最终导致多系统病理学。 根据症状出现的年龄、器官受累的程度以及进展至死亡的速度，庞贝病被分为不同的亚型。疾病范围很广，从快速进展的婴儿期发病到进展缓慢的迟发性，这些极端之间存在相当大的变异性和重叠。值得注意的是，庞贝病的所有表现都有一个共同的基础病理学；即，GAA 缺乏导致糖原积累。 症状出现在童年时期或晚至六十岁。患者出现进行性肌病，主要是骨盆和肩带的近端肌肉，以及呼吸系统受累的不同进展。患者出现轻微的心肌病或没有出现心肌病。晚发庞贝氏病的病程比婴儿型庞贝氏病更难预测，一些患者骨骼和呼吸肌功能迅速恶化，导致无法行走和呼吸衰竭，另一些患者进展缓慢，还有一些患者骨骼和呼吸肌受累的进展呈分离状态。 大多数患者只能坐在轮椅上，需要呼吸机支持，最终死于呼吸衰竭。