A Prospective, Observational Study in Patients With Late-Onset Pompe Disease

Genzyme, a Sanofi Company5 个研究点分布在 3 个国家目标入组 61 人开始时间: 2004年3月最近更新: 2015年5月5日

适应症

试验速览

阶段: 不适用
状态: 已完成
发起方
入组人数: 61
试验地点: 5

研究概览研究设计入排标准研究者研究点记录与标识符相似试验

研究概览

简要总结

Pompe disease (also known as glycogen storage disease type II, "GSD-II") is caused by a deficiency of a critical enzyme in the body called acid alpha-glucosidase (GAA). Normally, GAA is used by the body's cells to break down glycogen (a stored form of sugar) within specialized structures called lysosomes. In patients with Pompe disease, an excessive amount of glycogen accumulates and is stored in various tissues, especially heart and skeletal muscle, which prevents their normal function.

This study is being conducted to collect prospective, observational data on patients with late-onset Pompe disease. Approximately 60 subjects with late-onset Pompe disease will be enrolled.

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: 8 Years 至 —（Child, Adult, Older Adult）
性别: All
接受健康志愿者: 否

入选标准

•The patient must provide signed, informed consent prior to performing any study-related procedures.
•The patient must have a diagnosis of Pompe disease based upon: a) documented marked deficiency of GAA activity by muscle biopsy, skin fibroblasts, or leukocytes OR b) documented GAA gene mutation by deoxyribonucleic acid (DNA) analysis
•The patient must be greater than 8 years of age if enrolled at a site in the U.S. and greater than 18 years of age if enrolled at a site in Europe
•The patient must have documented onset of symptoms of Pompe disease after 12 months of age
•The patient must have at least 3 testable muscle groups in the arms and 3 testable muscle groups in the legs using quantitative muscle testing
•The patient must be able to perform pulmonary and muscle function testing in the supine position
•The patient must be able to provide reproducible muscle and pulmonary function test results within 10% of each other performed on Day 1 and Day 2 of the Screening/Baseline visit and forced vital capacity measurements within 10% of each other performed in the upright position on Day 1 and Day 2 of the Screening/Baseline visit
•The patient must have the ability to comply with the clinical protocol

排除标准

•The patient is unable to ambulate (use of assistive devices, such as walker, cane, crutches, is permitted);
•The patient requires the use of invasive ventilatory support.
•The patient requires the use of noninvasive ventilatory support during waking hours.
•The patient has received enzyme replacement therapy with acid alpha-glucosidase from any source
•The patient has received an investigational drug within 30 days prior to study enrollment, or is currently enrolled in another study which involves clinical evaluations
•The patient has a medical condition, serious intercurrent illness, or other extenuating circumstance that, in the opinion of the Investigator, may significantly interfere with study compliance including all prescribed evaluations and follow-up activities
•The patient has a major congenital abnormality
•For female patients only, the patient is pregnant or lactating, or is unwilling to practice birth control methods during the course of the study

研究者

发起方

Genzyme, a Sanofi Company

申办方类型

Industry

研究点 (5)

Loading locations...

相似试验

已完成

2 期

A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe DiseaseGlycogen Storage Disease Type II

NCT00059280Genzyme, a Sanofi Company16

已完成

1 期

rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease)Glycogen Storage Disease Type IIAcid Maltase Deficiency DiseaseGlycogenosis 2Pompe Disease

NCT00053573Genzyme, a Sanofi Company20

已完成

3 期

A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe DiseasePompe Disease (Late-onset)Glycogen Storage Disease Type II (GSD-II)Acid Maltase Deficiency DiseaseGlycogenosis 2

NCT00158600Genzyme, a Sanofi Company90

已完成

2 期

Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602Glycogen Storage Disease Type II

NCT00125879Genzyme, a Sanofi Company16

已完成

3 期

Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory SupportPompe Disease (Late-onset)Glycogen Storage Disease Type II (GSD-II)Acid Maltase Deficiency DiseaseGlycogenosis 2

NCT00268944Genzyme, a Sanofi Company5