NCT00731081已完成不适用
Observational Study About the Evolution of Severe Late Onset Pompe Disease Patient With Pulmonary Dysfunction and Receiving Myozyme
Genzyme, a Sanofi Company1 个研究点 分布在 1 个国家目标入组 8 人开始时间: 2007年3月最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 8
- 试验地点
- 1
- 主要终点
- To describe severe late onset patients with Pompe disease receiving Myozyme and follow-up according to the CETP recommendations
研究概览
简要总结
To describe severe late onset patients with pompe disease receiving Myozyme®
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Male or Female ≥ 18 years of age;
- •The patient and/or patient's legal representative has given their informed consent in writing before any study procedure is initiated;
- •Pompe disease confirmed by documented deficit in endogenous acid alpha-glucosidase (GAA) activity;
- •A severe form of the disease as defined as follows: a. Moderate to severe limb girdle muscle weakness requiring help for walking around (sticks, crutches, walking frame or wheelchair); and b. Symptoms of diaphragmatic dysfunction defined by at least 2 out of the 3 following criteria: orthopnea, vital capacity < 50%, paradoxical respiration detected in measurement of transdiaphragmatic pressure; and c. Use of invasive ventilation (defined by need for tracheotomy) or noninvasive ventilation (defined by utilization of assisted ventilation using a nasal or facial mask)day and night prescribed ≥ 12 hours/day;
- •Treated for ≥6 months with Myozyme;
- •Followed-up in a reference center according to the CETP recommendations.
排除标准
- •The patient presents with a major congenital anomaly;
- •The patient presents with a clinically important organic disease (except for symptoms related to Pompe disease) such as cardiovascular, hepatic, pulmonary, neurological or renal disease or any other medical condition, serious disease or particular circumstances that in the investigator's opinion, should preclude the patient's participation.
结局指标
主要结局
To describe severe late onset patients with Pompe disease receiving Myozyme and follow-up according to the CETP recommendations
时间窗: 12 to 18 months
次要结局
未报告次要终点
研究者
研究点 (1)
Loading locations...
相似试验
Unknown
不适用
A Long Term Follow up Study in Late-onset Pompe DiseasePompe DiseaseNCT00713245National Taiwan University Hospital70
招募中
不适用
A Long-term Study for the Outcome of Pompe DiseasePompe DiseaseNCT02399748National Taiwan University Hospital50
已完成
4 期
Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase AlfaPompe Disease (Late-Onset)Glycogen Storage Disease Type II (GSD II)Glycogenesis 2 Acid Maltase DeficiencyNCT01288027Genzyme, a Sanofi Company16
已完成
不适用
The incidence of late-onset Pompe disease in subjects with obstructive sleep apnearare muscle disordersleep disorder10046304NL-OMON36188eids Universitair Medisch Centrum500
招募中
不适用
Natural History of Pompe DiseaseGlycogen Storage Disease Type II, AdultNCT03564561Assistance Publique - Hôpitaux de Paris20