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

Pompe Disease Clinical Trial

— POPS3  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02746718
• Other study ID #: 14-PP-13
• Status: Completed
• Phase: N/A
• Start date: December 11, 2015
• Est. completion date: December 11, 2019

Study information

• Verified date: March 2018
• Source: Centre Hospitalier Universitaire de Nice
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 50
• Est. completion date: December 11, 2019
• Est. primary completion date: December 11, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Glycogen Storage Disease Type II
• Muscle Weakness
• Paresis
• Pompe Disease
• Respiratory Insufficiency

Intervention

Other:
• Blood sample
A blood sample for CPK dosage and pompe disease test

Locations

Country	Name	City	State
France	CHU d'Angers	Angers
France	Centre hospitalier d'Argenteuil	Argenteuil
France	CHU de Brest	Brest
France	CH d'Escartons	Briancon
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-Étienne
France	CHU de Toulouse	Toulouse
France	CHRU de Tours	Tours
France	Clinique Saint Joseph	Trélazé

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire de Nice

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	Number of new cases and etiologies of neuromuscular diseases diagnosed in patients with unexplained restriction of lung volumes	If a patient have an high CPK rate or a blotter test positive for Pompe disease or a suspicion of muscular disease with the muscular questionnaires, the patient is addressed to a specialist to determine etiology of the muscular disease.	at 6 month
Secondary	Frequency and description of neurological symptoms associated with neuromuscular diseases to respiratory revelation	If a patient have an high CPK rate or a suspicion of muscular disease with the muscular questionnaires, the patient is addressed to a specialist to determine etiology of the muscular disease.	at 6 month