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

NCT ID: NCT02746718

Last Updated: 2023-03-22

Basic Information

• Recruitment Status: COMPLETED
• Clinical Phase: NA
• Total Enrollment: 50 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2015-12-11
• Study Completion Date: 2019-12-11

Brief 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

Study Design

• Allocation Method: NA
• Intervention Model: SINGLE_GROUP
• Primary Study Purpose: DIAGNOSTIC
• Blinding Strategy: NONE

Study Groups

Restrictive Respiratory Failure

A CPK dosage, muscular questionnaires and a Pompe Disease test are practiced on patient with Restrictive Respiratory Failure without etiology

Group Type: OTHER

Blood sample

Intervention Type: OTHER

A blood sample for CPK dosage and pompe disease test

Interventions

Blood sample

A blood sample for CPK dosage and pompe disease test

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• 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

Exclusion Criteria

• 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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Centre Hospitalier Universitaire de Nice

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Sabrina Sacconi

Role: PRINCIPAL_INVESTIGATOR

Centre Hospitalier Universitaire de Nice

Locations

CHU d'Angers

Angers, , France

Centre hospitalier d'Argenteuil

Argenteuil, , France

CHU de Brest

Brest, , France

CH d'Escartons

Briançon, , France

CH de Cannes

Cannes, , France

CHI de Créteil

Créteil, , France

CHU le Bocage

Dijon, , France

CHRU de Lille

Lille, , France

CHU de Limoges

Limoges, , France

Cabinet Dr Pereira-Cortese

Nice, , France

CHU de Nice

Nice, , France

GH Pitié Salpêtrière

Paris, , France

Hôpital Raymond Poincaré

Paris, , France

Hôpital Saint Louis

Paris, , France

Hôpital Tenon

Paris, , France

Polyclinique les Bleuets

Reims, , France

CHU de Rouen

Rouen, , France

CHU de St Etienne

Saint-Etienne, , France

CHU de Toulouse

Toulouse, , France

CHRU de Tours

Tours, , France

Clinique Saint Joseph

Trélazé, , France

Countries

France

Other Identifiers

14-PP-13

Identifier Type: -

Identifier Source: org_study_id