Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 50
- 试验地点
- 26
- 主要终点
- Number of new cases of Pompe disease diagnosed by a positive DBS
研究概览
简要总结
A breach of respiratory function may be one of the elements more or less early or predominant clinical picture of neuromuscular diseases. It is considered that the obstructive syndromes represent 64% and restrictive or mixed syndromes 36% of chronic respiratory insufficiency, approximately 7% due to a neuromuscular disease. The frequency and type of impairment are dependent on the underlying pathology.
The neuromuscular restrictive respiratory failure (IRR) remains partially unknown pulmonologists, especially because the signs of muscle weakness are sometimes difficult to detect. However, respiratory diseases are a major concern in neuromuscular diseases because they can have an impact both on sleep (not sleep, ...) on the daily activities (breathlessness on exertion, dyspnea) and thereby alter the quality of life of patients. Moreover, they represent a significant morbidity and mortality factor. Chest tightness may in some cases reveal the disease and thus constitute the chief complaint of a patient with a neuromuscular disease. In late-onset Pompe disease, lung disease is the predominant clinical symptoms in about 30% of patients.
An algorithm was developed to guide practitioners and help them in their diagnostic approach to the cause of the IRR (diagnostic algorithm ATS / ERS 2005). However, this algorithm does not allow precise identification of the neuromuscular causes.
At the patient level, this can have an impact by extending the time before placing a diagnosis. In Pompe disease, the average time to diagnosis reached 7.9 years. However, there are for this disease a simple and rapid diagnostic test. Therefore, a greater awareness of practitioners with regard to the particular Pompe disease and neuromuscular diseases in general may be beneficial to patients.
This study aims to:
i) awareness pulmonologists to the possibility of neuromuscular an IRR.
ii) characterize the frequency of neuromuscular origin of IRR in a broad population of patients with concomitant signs muscle weakness.
iii) reduce the time to diagnosis by directing patients to neuromuscular reference center early.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Diagnostic
- 盲法
- None
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
- •Presence of a CV <80% of predicted and / or <LIN
- •Presence spirometry a report Tiffeneau (FEV / CV) equal to or higher than normal
- •Signature of informed consent
- •Men and women age ≥ 18 years
- •Production of a medical examination
- •Affiliated to social security
排除标准
- •restrictive breath traumatic
- •restrictive respiratory failure associated with parenchymal disorder, whether localized or diffuse
- •known neuromuscular disease associated with a restrictive lung disease
- •Patient under guardianship, curatorship, protected by law
- •Inability to cooperate
- •Morbid obesity with a BMI ≥40
结局指标
主要结局
Number of new cases of Pompe disease diagnosed by a positive DBS
时间窗: At the inclusion
Number of new cases of Pompe disease diagnosed by a positive DBS in patients with unexplained restriction pulmonaires.ries volumes, the patient is adressed to a specialist to dertermine etilogy of the muscular disease.
次要结局
- Frequency and description of neurological symptoms associated with neuromuscular diseases to respiratory revelation(at 6 month)
- Number of new cases and etiologies of neuromuscular diseases diagnosed in patients with unexplained restriction of lung volumes(at 6 month)