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Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies) (OPALE)

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ClinicalTrials.gov Identifier: NCT03058185
Recruitment Status : Recruiting
First Posted : February 20, 2017
Last Update Posted : July 28, 2020
Sponsor:
Information provided by (Responsible Party):
Bruno Eymard, Pitié-Salpêtrière Hospital

Brief Summary:

Laminopathies and emerinopathies are complex group of rare disorders due to mutations in A-type lamins (LMNA) and Emerin (EMD) genes. Among them, disorders affecting skeletal and/or cardiac muscles are the most frequent clinical manifestations, with cardiac disease being a major cause of death. Remarkable progress has been made in the description of the clinical and genetic spectrum of these diseases since the 1990's. Until now, precise phenotype/genotype relations remain elusive. As for several other neuromuscular disorders, apart from symptomatic treatments, there is currently no specific treatment to prevent or slow down the progression of the disease. The OPALE registry is a multicentre web-based registry dedicated to laminopathy and emerinopathy French patients. OPALE has been approved by ethical and regulatory authorities. Its main inclusion criteria is the presence of a proven pathogenic LMNA and/or EMD gene mutation.

The OPALE objectives are to provide a tool allowing detailed capture of patient genetic, neurological, cardiological, endocrinological and respiratory assessments, in order to allow i) precise disease natural history, ii) evaluation of different disease complication frequency and iii) identification of prognosis factors.


Condition or disease
Laminopathies Emerinopathies

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Study Type : Observational [Patient Registry]
Estimated Enrollment : 800 participants
Observational Model: Case-Only
Time Perspective: Prospective
Target Follow-Up Duration: 10 Years
Official Title: Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Actual Study Start Date : July 11, 2013
Estimated Primary Completion Date : July 11, 2023
Estimated Study Completion Date : July 11, 2023



Primary Outcome Measures :
  1. Comprehensive clinical evaluation of individuals with geneticaly proven mutations in LMNA or EMD genes according to the study protocol, in order to evaluate disease progression [ Time Frame: yearly up to 10 years ]
    Comprehensive clinical evaluation of individuals with geneticaly proven mutations in LMNA or EMD genes according to the study protocol, in order to evaluate disease progression



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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Sampling Method:   Non-Probability Sample
Study Population
Patients with a proven pathogenic LMNA and/or EMD gene mutation
Criteria

Inclusion Criteria:

  • Presence of a proven pathogenic LMNA and/or EMD gene mutation
  • Regular followup in France.
  • Signed informed consent

Exclusion Criteria:

-Signed informed refusal


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): NCT03058185


Contacts
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Contact: Cathy CHIKHAOUI +33142165873 k.chikhaoui@institut-myologie.org

Locations
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France
CHU Marseille Recruiting
Marseille, Bouches-du-Rhône, France, 13000
Contact: AnnaChiara DE SANDRE-GIOVANNOLI, Md, PhD    +33 491 38 66 27    annachiara.desandre@ap-hm.fr   
Contact: Bénédicte GABORIT    +33 491 96 87 23    benedicte.gaborit@ap-hm.fr   
CHU Bordeaux Recruiting
Bordeaux, Gironde, France, 33000
Contact: Guilhem SOLE, MD    +33 557 82 13 80    guilhem.sole@chu-bordeaux.fr   
Contact: Frédéric SACHER, MD    +33 557 65 64 71    frederic.sacher@chu-bordeaux.fr   
Centre de référence maladies neuromusculaires ile de France, Hôpital Necker Enfants malades Recruiting
Paris, Ile De France, France, 75000
Contact: Isabelle DESGUERRE, MD, PhD    +33 144 49 58 36    isabelle.desguerre@aphp.fr   
Contact: Christine BARNERIAS, MD    +33 144 49 58 36    christine.barnerias@aphp.fr   
CHU Caen Recruiting
Caen, Normandie, France
Contact: Fabien Labonbarda, MD, PhD       labombarda-f@chu-caen.fr   
Contact: Françoise Chapon, MD, PhD       chapon-f@chu-caen.fr   
Principal Investigator: Stéphane Schaeffer, MD         
Centre de référence des maladies neuromusculaires Ile de France, Hôpital Raymond Poincaré Recruiting
Garches, Yvelines, France
Contact: Susana QUIJANO-ROY, MD, PhD    +33 147 10 78 90    susana.quijano-roy@aphp.fr   
Contact: Ivana DABAJ, MD    +33 147 10 78 90    ivana.dabaj@aphp.fr   
Centre de référence maladies neuromusculaires,CHU d'Angers Recruiting
Angers, France, 49933
Contact: Julien Durigneux, MD       JuDurigneux@chu-angers.fr   
Contact: Marco Spinazzi, MD    +33 241357933    Marco.Spinazzi@chu-angers.fr   
Centre de référence des maladies neuromusculaires, CHRU Lille Recruiting
Lille, France, 59037
Contact: Jean Marie Cuisset, MD       Jean-Marie.CUISSET@CHRU-LILLE.FR   
Principal Investigator: Florence Petit, MD         
Principal Investigator: Vincent Tiffreau, MD         
Principal Investigator: Celine Tard, MD         
Principal Investigator: Marie-Christine Vantyghem, MD         
Centre de référence des maladies neuromusculaires, CHU Lyon Recruiting
Lyon, France, 69002
Contact: Françoise Bouhour, MD    +33 4 72 11 80 63    francoise.bouhour@chu-lyon.fr   
Contact: Véronique Manel, MD    +33 4 72 38 56 86    veronique.manel@chu-lyon.fr   
Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine Recruiting
Paris, France, 75012
Contact: Corinne VIGOUROUX, MD, PhD    +33 171 97 09 78    corinne.vigouroux@inserm.fr   
Contact: Camille VATIER, MD, PhD    33 140 01 13 21    camille.vatier@inserm.fr   
Centre de référence maladies neuromusculaires ile de France, GH Pitié-Salpêtrière Recruiting
Paris, France, 75013
Contact: Cathy CHIKHAOUI    +33142165873    k.chikhaoui@institut-myologie.org   
Service de cardiologie, Hôpital Cochin Recruiting
Paris, France, 75014
Contact: Denis Duboc, MD, PhD       denis.duboc@aphp.fr   
Contact: Karim Wahbi, MD, PhD       karim.wahbi@aphp.fr   
Centre de référence maladies neuromusculaires ile de France, Hôpital Armand Trousseau Recruiting
Paris, France
Contact: Arnaud ISAPOF, MD    +33 171 73 85 51    arnaud.isapof@aphp.fr   
Contact: Michele MAYER, MD    +33 171 73 82 79    michele.mayer@aphp.fr   
Sponsors and Collaborators
Pitié-Salpêtrière Hospital
Additional Information:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Bruno Eymard, Clinical Professor-Head of the neuromuscular reference center, Pitié-Salpêtrière Hospital
ClinicalTrials.gov Identifier: NCT03058185    
Other Study ID Numbers: CPP58-12, ID-RCB2012-A00791
First Posted: February 20, 2017    Key Record Dates
Last Update Posted: July 28, 2020
Last Verified: July 2020
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Bruno Eymard, Pitié-Salpêtrière Hospital:
Lamin A/C
Emerin