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

NCT02746718 | Completed

• 1 other identifier: 14-PP-13
• Study Type: interventional
• Target: 50
• Locations: 1 country
• Sites: 21

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

Outcome Measures

Primary Outcomes (1)

• Number of new cases of Pompe disease diagnosed by a positive DBS

  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.

  At the inclusion

Secondary Outcomes (2)

• Number of new cases and etiologies of neuromuscular diseases diagnosed in patients with unexplained restriction of lung volumes

  at 6 month

• Frequency and description of neurological symptoms associated with neuromuscular diseases to respiratory revelation

  at 6 month

Study Arms (1)

Restrictive Respiratory Failure

OTHER

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

Other: Blood sample

Interventions

Blood sample OTHER

A blood sample for CPK dosage and pompe disease test

Restrictive Respiratory Failure

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nice: lead

Study Sites (21)

CHU d'Angers

Angers, France

Location

Centre hospitalier d'Argenteuil

Argenteuil, France

Location

CHU de Brest

Brest, 29609, France

Location

CH d'Escartons

Briançon, France

Location

CH de Cannes

Cannes, France

Location

CHI de Créteil

Créteil, 94000, France

Location

CHU le Bocage

Dijon, France

Location

CHRU de Lille

Lille, France

Location

CHU de Limoges

Limoges, France

Location

Cabinet Dr Pereira-Cortese

Nice, France

Location

CHU de Nice

Nice, France

Location

GH Pitié Salpêtrière

Paris, France

Location

Hôpital Raymond Poincaré

Paris, France

Location

Hôpital Saint Louis

Paris, France

Location

Hôpital Tenon

Paris, France

Location

Polyclinique les Bleuets

Reims, France

Location

CHU de Rouen

Rouen, France

Location

CHU de St Etienne

Saint-Etienne, 94000, France

Location

CHU de Toulouse

Toulouse, France

Location

CHRU de Tours

Tours, 37044, France

Location

Clinique Saint Joseph

Trélazé, 49800, France

Location

MeSH Terms

Conditions

Glycogen Storage Disease Type II

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Glycogen Storage Disease; Carbohydrate Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Sabrina Sacconi

  Centre Hospitalier Universitaire de Nice

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 12, 2016
• First Posted: April 21, 2016
• Study Start: December 11, 2015
• Primary Completion: December 11, 2019
• Study Completion: December 11, 2019
• Last Updated: March 22, 2023

Record last verified: 2018-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (21)