AGLU03206 OPEN LABEL EXTENSION OF AGLU02704

AGLU03206 AGLU02704 的开放标签扩展

• 批准号: 7950754
• 负责人: BARRY J BYRNE
• 金额: $ 0.24万
• 依托单位: UNIVERSITY OF FLORIDA
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-12-01 至 2009-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7950754
• 关键词: Acids; Adverse event; Binding; Cardiomyopathies; Clinical Research; Computer Retrieval of Information on Scientific Projects Database; Deterioration; Disease; Dissociation; Enzymes; Funding; Glycogen; Glycogen storage disease type II; Grant; Institution; Intravenous; Intravenous infusion procedures; Metabolic; Monitor; Muscle; Muscle function; Myopathy; Organelles; Pathology; Patients; Pelvis; Pharmaceutical Preparations; Research; Research Personnel; Resources; Respiratory Failure; Respiratory Muscles; Safety; Schedule; Shoulder; Source; Tissues; United States National Institutes of Health; Ventilator; Visit; Wheelchairs; experience; glucosidase; infancy; open label; respiratory; safety study; skeletal; treatment duration

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-GAA, an enzyme that degrades lysosomal glycogen. Pompe disease is characterized by organelle bound, lysosomal, and extra-lysosomal accumulation of glycogen in many body tissues, ultimately leading to multisystemic pathology. There is a broad spectrum of disease ranging from a rapidly progressive form- infantile-onset, to a slow, progressive form-late-onset. All presentations of Pompe disease share a common underlying pathology; i.e., deficiency of GAA with accumulation of glycogen. The late-onset form of Pompe disease progresses less rapidly than the infantile-onset form. Patients present with progressive myopathy of the proximal muscles in the pelvic and shoulder girdles, and a progression of respiratory involvement; 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/respiratory muscle involvement. These patients develop minimal or no cardiomyopathy. Most patients become wheelchair-bound, require ventilator support and ultimately succumb to respiratory failure. This is a multicenter, multinational, open-label extension study of the safety and efficacy of Myozyme treatment in patients with late-onset Pompe disease. Eligible patients will receive an intravenous-IV infusion of 20 mg/kg of Myozyme every other week-qow for a minimum of 52 weeks. Safety and efficacy assessments will be performed at scheduled visits throughout the study treatment period. Adverse events-AE, concomitant medications/therapies and ventilator use will be monitored throughout the study.

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目和 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 庞贝氏症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葡萄糖醛酸酶-GAA（一种降解溶酶体糖原的酶）缺乏引起。 庞贝氏症的特征在于糖原在许多身体组织中的细胞器结合、溶酶体和溶酶体外蓄积，最终导致多系统病理学。 有一个广泛的疾病谱，从一个快速进行性的形式-发作，以缓慢，进行性的形式-晚发。 庞贝氏症的所有表现都有一个共同的潜在病理学;即，GAA缺乏伴糖原积累。 迟发性庞贝氏症的进展速度不如初发性庞贝氏症。 患者表现为骨盆和肩带近端肌肉的进行性肌病，以及呼吸系统受累的进展;与婴儿型相比，其可预测性较低，一些患者的骨骼肌和呼吸肌功能迅速恶化，导致截肢和呼吸衰竭，其他患者进展较慢，其他患者在骨骼肌/呼吸肌受累的进展中分离。 这些患者发生轻微或无心肌病。 大多数患者坐轮椅，需要呼吸机支持，最终死于呼吸衰竭。 这是一项在迟发型庞贝氏症患者中评价美而赞治疗的安全性和疗效的多中心、多国、开放标签扩展研究。合格患者将接受20 mg/kg美而赞静脉输注，每隔一周qow一次，至少持续52周。 将在整个研究治疗期间的计划访视时进行安全性和疗效评估。整个研究期间将监测不良事件-AE、伴随药物/治疗和呼吸机使用。