Frequency of Pompe Disease in Patients Followed at CERCA for Myalgia With or Without Hyper Ckemia
试验速览
- 阶段
- 不适用
- 发起方
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Primary outcome measure
研究概览
简要总结
Pompe's disease is a lysosomal storage disease of autosomal recessive genetic transmission due to a deficiency in acid alpha glucosidase. This enzyme deficiency leads to glycogen overload in all cells but with a more marked expression in muscle cells. There is a great variability in the clinical manifestations and in the age of onset of symptoms depending on whether the enzyme deficiency is partial or total. The prevalence is estimated at 1 in 40,000. There is a specific treatment based on enzyme replacement therapy
详细描述
Patients include: clinical examination, enzyme activity assay, muscle testing, cardiological and respiratory workup. Lowered enzyme activity suggests a pathogenic genetic variant to be identified. The secondary objective is to propose genetic counselling and a family investigation in order to identify relatives who are also affected.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 6 Years 至 80 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •• both sexes
- •with permanent myalgia, spontaneous or on effort,
- •with or without muscle deficit,
- •with or without HyperCkemia
- •without known etiologies
- •Age from 6 to 80 years
- •consulting for the first time or followed at CERCA
- •giving their free and informed consent to participate after information on the research
- •Affiliated to the social security system
排除标准
- •Person placed under guardianship and/or curatorship
- •Myalgias related to a known etiology
结局指标
主要结局
Primary outcome measure
时间窗: The recruitment will take place in our specialized center for the management and follow-up of patients with neuromuscular pathology. A total of 100 patients are likely to be included in the study during the years 2020-2022
To estimate the frequency of Pompe's disease in men and women with permanent, spontaneous or exertional myalgia consulting for the first time or followed in our center. This criterion will be evaluated by biochemical and genetic analyses. Improvement of diagnostic deficiency and genetic counseling is envisaged. A discussion could be opened for these patients regarding the application of enzyme replacement therapy.
次要结局
- Muscle testing(2 years)
- Cardiological check-up(2 years)
- Respiratory check-up(2 years)
- Genetic counselling activity(2 years)