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.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 庞贝疾病是一种罕见的常染色体隐性代谢肌肉疾病，这是由酸Q葡萄糖酶-GAA的缺乏引起的，这是一种降解溶酶体糖原的酶。 庞贝疾病的特征是糖原在许多身体组织中的细胞器结合，溶酶体和溶酶体外积累的特征，最终导致了多系统病理学。 从快速进行性形式性发作到缓慢，进行性的表格效率发作的广泛疾病。 庞贝疾病的所有介绍具有共同的基本病理；即，GAA的缺乏，积累糖原。 庞贝疾病的后期形式的进展速度较快，而不是婴儿发作的形式。 患者患有骨盆和肩膀束近端肌肉的进行性肌病，以及呼吸参与的进展。不如婴儿形式可预测，有些患者在骨骼和呼吸道肌肉功能中迅速恶化，导致行动和呼吸衰竭的丧失，而另一些患者的进展较低，而另一些患者则在骨骼/呼吸肌肉受累的发展方面取得了分离。 这些患者的心肌病很少或没有心肌病。 大多数患者成为轮椅结合，需要呼吸机支持，并最终屈服于呼吸衰竭。 这是一项多中心，跨国标签的扩展研究，对肌酶治疗在晚发病患者中的安全性和有效性。符合条件的患者将每隔一周的静脉内注射20 mg/kg的静脉内输注至少52周。 在整个研究治疗期间，将在计划的访问中进行安全性和有效性评估。在整个研究过程中，将监测不良事件，伴随药物/疗法和呼吸机的使用。