NCT02746718

Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 50 (actual)
• Sponsor: Centre Hospitalier Universitaire de Nice · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

Summary

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.

Conditions

• Pompe Disease

Interventions

Type	Name	Description
OTHER	Blood sample	A blood sample for CPK dosage and pompe disease test

Timeline

• Start date: 2015-12-11
• Primary completion: 2019-12-11
• Completion: 2019-12-11
• First posted: 2016-04-21
• Last updated: 2023-03-22

Locations

21 sites across 1 country: France