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Trial record 2 of 96 for:    pompe disease

Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness (POPS3)

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ClinicalTrials.gov Identifier: NCT02746718
Recruitment Status : Recruiting
First Posted : April 21, 2016
Last Update Posted : March 19, 2018
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire de Nice

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.


Condition or disease Intervention/treatment Phase
Pompe Disease Other: Blood sample Not Applicable

Study Type : Interventional  (Clinical Trial)
Estimated Enrollment : 500 participants
Intervention Model: Single Group Assignment
Masking: None (Open Label)
Primary Purpose: Diagnostic
Official Title: Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness
Actual Study Start Date : December 11, 2015
Estimated Primary Completion Date : December 11, 2019
Estimated Study Completion Date : December 11, 2019

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Arm Intervention/treatment
Restrictive Respiratory Failure
A CPK dosage, muscular questionnaires and a Pompe Disease test are practiced on patient with Restrictive Respiratory Failure without etiology
Other: Blood sample
A blood sample for CPK dosage and pompe disease test



Primary Outcome Measures :
  1. Number of new cases of Pompe disease diagnosed by a positive DBS [ Time Frame: At the inclusion ]
    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.


Secondary Outcome Measures :
  1. Number of new cases and etiologies of neuromuscular diseases diagnosed in patients with unexplained restriction of lung volumes [ Time Frame: at 6 month ]
    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.

  2. Frequency and description of neurological symptoms associated with neuromuscular diseases to respiratory revelation [ Time Frame: at 6 month ]
    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.



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Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02746718


Contacts
Contact: Sabrina Sacconi 0492035505 sacconi.s@chu-nice.fr
Contact: Hélène PRIGENT helene.prigent@aphp.fr

Locations
France
CHU d'Angers Recruiting
Angers, France
Contact: Trzepizur       WoTrzepizur@chu-angers.fr   
Principal Investigator: Trzepizur         
Centre hospitalier d'Argenteuil Recruiting
Argenteuil, France
Contact: Laure Belmont       Laure.belmont@ch-argenteuil.fr   
Principal Investigator: Laure Belmont         
CHU de Brest Recruiting
Brest, France, 29609
Contact: Fabrice Rannou, PH    +33(0)2 98 34 73 66    Fabrice.rannou@chu-brest.fr   
Principal Investigator: Fabrice Rannou         
CH d'Escartons Recruiting
Briancon, France
Contact: Girard       fgirard@ch-briancon.fr   
Principal Investigator: Girard         
CH de Cannes Recruiting
Cannes, France
Contact: Christophe PERRIN       c.perrin@ch-cannes.fr   
Principal Investigator: Christophe PERRIN         
CHI de Créteil Not yet recruiting
Créteil, France, 94000
Contact: Gilles Mangiapan, PH    +33(01) 57 02 20 80    Gilles.mangiapan@chicreteil.fr   
Contact: Zakaria Saakashvili, PH       Zakaria.saakashvili@chicreteil.fr   
Principal Investigator: Gilles Mangiapan         
Sub-Investigator: Zakaria Saakashvili         
CHU le Bocage Not yet recruiting
Dijon, France
Contact: Claudio Rabec       claudio.rabec@chu-dijon.fr   
Principal Investigator: Claudio Rabec         
CHRU de Lille Recruiting
Lille, France
Contact: Thierry PEREZ       Thierry.PEREZ@CHRU-LILLE.FR   
Principal Investigator: Thierry PEREZ         
CHU de Limoges Not yet recruiting
Limoges, France
Contact: Florent Favard       Florent.favard@chu-limoges.fr   
Principal Investigator: Florent Favard         
Cabinet Dr Pereira-Cortese Recruiting
Nice, France
Contact: Pereira-Cortese       dr.pereira.c@gmail.com   
Principal Investigator: Pereira-Cortese         
CHU de Nice Recruiting
Nice, France
Contact: Sabrina SACCONI       sacconi.s@chu-nice.fr   
Principal Investigator: Sabrina SACCONI         
GH Pitié Salpêtrière Recruiting
Paris, France
Contact: Capucine Morélot-Panzini       capucine.morelot@aphp.fr   
Principal Investigator: Capucine Morélot-Panzini         
Hôpital Raymond Poincaré Recruiting
Paris, France
Contact: Hélène PRIGENT       helene.prigent@rpc.aphp.fr   
Principal Investigator: Hélène PRIGENT         
Hôpital Saint Louis Recruiting
Paris, France
Contact: Abdellatif Tazi       abdellatif.tazi@sls.aphp.Fr   
Principal Investigator: Abdellatif Tazi         
Hôpital Tenon Recruiting
Paris, France
Contact: Marie Wislez       marie.wislez@tnn.aphp.fr   
Principal Investigator: Marie Wislez         
Polyclinique les Bleuets Recruiting
Reims, France
Contact: Julie Nardi       julie.nardi@laposte.net   
Principal Investigator: Julie Nardi         
CHU de Rouen Not yet recruiting
Rouen, France
Contact: Antoine Cuvelier       antoine.cuvelier@chu-rouen.fr   
Principal Investigator: Antoine Cuvelier         
CHU de St Etienne Recruiting
Saint-Étienne, France, 94000
Contact: Isabelle Court-Fortune, PH    +33(0)4 77 82 82 89    Isabelle.court_fortune@chu-st-etienne.fr   
Principal Investigator: Isabelle Court-Fortune         
CHU de Toulouse Recruiting
Toulouse, France
Contact: Sedkaoui       sedkaoui.k@chu-toulouse.fr   
Principal Investigator: Sedkaoui         
CHRU de Tours Recruiting
Tours, France, 37044
Contact: Laurent Plantier, PH    +33(0)2 47 47 98 44    laurent.plantier@univ-tours.fr   
Contact: Julien Praline, PH    +33(0)2 47 47 38 25    j.praline@chu-tours.fr   
Principal Investigator: Laurent Plantier         
Sub-Investigator: Julien Praline         
Clinique Saint Joseph Recruiting
Trélazé, France, 49800
Contact: Ulrike Lerolle    +33(0)2 41 89 92 79    Lerolle.pneumo@gmail.com   
Principal Investigator: Ulrike Lerolle         
Sponsors and Collaborators
Centre Hospitalier Universitaire de Nice
Investigators
Principal Investigator: Sabrina Sacconi CHU de Nice

Responsible Party: Centre Hospitalier Universitaire de Nice
ClinicalTrials.gov Identifier: NCT02746718     History of Changes
Other Study ID Numbers: 14-PP-13
First Posted: April 21, 2016    Key Record Dates
Last Update Posted: March 19, 2018
Last Verified: March 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Additional relevant MeSH terms:
Glycogen Storage Disease Type II
Respiration Disorders
Respiratory Tract Diseases
Lysosomal Storage Diseases, Nervous System
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Glycogen Storage Disease
Lysosomal Storage Diseases
Metabolic Diseases
Muscular Diseases
Musculoskeletal Diseases
Respiratory Insufficiency
Muscle Weakness
Paresis
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Neuromuscular Manifestations
Neurologic Manifestations
Pathologic Processes
Signs and Symptoms