Clinical trial NCT02746718: Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness
Official title: Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: NA
Conditions: Pompe Disease
Lead sponsor: Centre Hospitalier Universitaire de Nice
Sponsor class: OTHER
First posted: 2016-04-21
Enrollment: 50
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

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.


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

Primary outcomes:
measure: Number of new cases of Pompe disease diagnosed by a positive DBS
timeFrame: At the inclusion
Secondary outcomes:
measure: Number of new cases and etiologies of neuromuscular diseases diagnosed in patients with unexplained restriction of lung volumes
timeFrame: at 6 month
measure: Frequency and description of neurological symptoms associated with neuromuscular diseases to respiratory revelation
timeFrame: at 6 month
Other outcomes:
Locations:
city: Angers
country: France
facility: CHU d'Angers
city: Argenteuil
country: France
facility: Centre hospitalier d'Argenteuil
city: Brest
country: France
facility: CHU de Brest
city: Briancon
country: France
facility: CH d'Escartons
city: Cannes
country: France
facility: CH de Cannes
city: Créteil
country: France
facility: CHI de Créteil
city: Dijon
country: France
facility: CHU le Bocage
city: Lille
country: France
facility: CHRU de Lille
city: Limoges
country: France
facility: CHU de Limoges
city: Nice
country: France
facility: Cabinet Dr Pereira-Cortese
city: Nice
country: France
facility: CHU de Nice
city: Paris
country: France
facility: GH Pitié Salpêtrière
city: Paris
country: France
facility: Hôpital Raymond Poincaré
city: Paris
country: France
facility: Hôpital Saint Louis
city: Paris
country: France
facility: Hôpital Tenon
city: Reims
country: France
facility: Polyclinique les Bleuets
city: Rouen
country: France
facility: CHU de Rouen
city: Saint-Étienne
country: France
facility: CHU de St Etienne
city: Toulouse
country: France
facility: CHU de Toulouse
city: Tours
country: France
facility: CHRU de Tours
city: Trélazé
country: France
facility: Clinique Saint Joseph
Study officials:
affiliation: Centre Hospitalier Universitaire de Nice
name: Sabrina Sacconi
role: PRINCIPAL_INVESTIGATOR
References: