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

NCT ID: NCT03058185

Last Updated: 2025-03-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

800 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-07-11

Study Completion Date

2033-07-11

Brief Summary

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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.

Detailed Description

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Conditions

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Laminopathies Emerinopathies

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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Inclusion Criteria

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

Exclusion Criteria

-Refusal to sign an informed consent.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Institute of Myology

OTHER

Sponsor Role collaborator

Assistance Publique - Hôpitaux de Paris

OTHER

Sponsor Role collaborator

Institut National de la Santé Et de la Recherche Médicale, France

OTHER_GOV

Sponsor Role collaborator

Pitié-Salpêtrière Hospital

OTHER

Sponsor Role lead

Responsible Party

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Bruno Eymard

Clinical Professor-Neuromuscular Unit

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Karim Wahbi, MD, PhD

Role: PRINCIPAL_INVESTIGATOR

Assistance Publique - Hôpitaux de Paris

Gisele Bonne, PhD

Role: PRINCIPAL_INVESTIGATOR

Institut National de la Santé Et de la Recherche Médicale, France

Rabah Ben Yaou, MD

Role: PRINCIPAL_INVESTIGATOR

Institut de myologie

Locations

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Centre de référence maladies neuromusculaires,CHU d'Angers

Angers, Angers, France

Site Status RECRUITING

CHU Strasbourg

Strasbourg, Bas-Rhin, France

Site Status RECRUITING

CHU Marseille

Marseille, Bouches-du-Rhône, France

Site Status RECRUITING

CHU Caen

Caen, Calvados, France

Site Status RECRUITING

CHU Brest

Brest, Finistère, France

Site Status RECRUITING

CHU Nimes

Nîmes, Gard, France

Site Status RECRUITING

CHU Bordeaux

Bordeaux, Gironde, France

Site Status RECRUITING

Centre de Référence de Pathologie NeuroMusculaire, CHU Toulouse

Toulouse, Haute-Garonne, France

Site Status RECRUITING

CHU Montpelleir

Montpellier, Hérault, France

Site Status RECRUITING

CHU Rennes

Rennes, Ille-et-Vilaine, France

Site Status RECRUITING

CHU Tours

Tours, Indre-et-Loire, France

Site Status RECRUITING

Centre de référence des maladies neuromusculaires, CHRU Lille

Lille, Lille, France

Site Status RECRUITING

Laboratoire d'Explorations Fonctionnelle, CHU Nantes

Nantes, Loire-Atlantique, France

Site Status RECRUITING

Centre de référence des maladies neuromusculaires, CHU Lyon

Lyon, Lyon, France

Site Status RECRUITING

CHU Nancy

Nancy, Meurthe-et-Moselle, France

Site Status RECRUITING

Centre de référence maladies neuromusculaires ile de France, Hôpital Armand Trousseau

Paris, Paris, France

Site Status RECRUITING

I-Motion Pédiatrique, Hôpital Armand Trousseau

Paris, Paris, France

Site Status RECRUITING

Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine

Paris, Paris, France

Site Status RECRUITING

Centre de référence maladies neuromusculaires ile de France, Institut de myologie, GH Pitié-Salpêtrière

Paris, Paris, France

Site Status RECRUITING

Institut de cardiologie, GH Pitié-Salpêtrière

Paris, Paris, France

Site Status RECRUITING

Service de cardiologie, Hôpital Cochin

Paris, Paris, France

Site Status RECRUITING

Cardiologie et maladies vasculaires, Hôpital Européen Georges-Pompidou HEGP

Paris, Paris, France

Site Status RECRUITING

CHU Clermont-Ferrand

Clermont-Ferrand, Puy-de-Dôme, France

Site Status RECRUITING

CHU Rouen

Rouen, Seine-Maritime, France

Site Status RECRUITING

Centre Expert de Pathologie Neuromusculaire - Département de Pathologie

Créteil, Val-de-Marne, France

Site Status RECRUITING

Centre de référence des maladies neuromusculaires Ile de France, Hôpital Raymond Poincaré

Garches, Yvelines, France

Site Status RECRUITING

CHU Grenoble

Grenoble, , France

Site Status RECRUITING

Centre de référence maladies neuromusculaires ile de France, Hôpital Necker Enfants malades

Paris, Île-de-France Region, France

Site Status RECRUITING

Countries

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France

Central Contacts

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Cathy Chikhaoui

Role: CONTACT

+33142165873

Hassina Bouguerra

Role: CONTACT

+33142165873

Facility Contacts

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Julien Durigneux, MD

Role: primary

Marco Spinazzi, MD

Role: backup

+33 241357933

Aleksandra Nadaj-Pakleza, MD

Role: primary

Anna Chiara DE SANDRE-GIOVANNOLI, Md, PhD

Role: primary

+33 491 38 66 27

Bénédicte GABORIT

Role: backup

+33 491 96 87 23

Fabien Labombarda, MD, PhD

Role: primary

Jean-Baptiste Noury, MD

Role: primary

Pierre François Winum, MD, PhD

Role: primary

Guilhem SOLE, MD

Role: primary

+33 557 82 13 80

Frédéric SACHER, MD

Role: backup

+33 557 65 64 71

Pascal Cintas, MD

Role: primary

05 61 77 94 40

Eric Bieth, MD

Role: backup

Ulrike Walther-Louvier, MD

Role: primary

Marie Christine Minot-Mihye, MD

Role: primary

Dominique Babuty, MD, PhD

Role: primary

Marie-Christine Vantyghem, MD

Role: primary

Yann Pereon, MD

Role: primary

02 40 08 36 17

Armelle Magot, MD

Role: backup

Françoise Bouhour, MD

Role: primary

+33 4 72 11 80 63

Véronique Manel, MD

Role: backup

+33 4 72 38 56 86

Maud Michaud

Role: primary

Arnaud Isapof, MD

Role: primary

+33 171 73 85 51

Andreea Seferian, MD

Role: primary

Corinne Vigouroux, MD, PhD

Role: primary

Camille Vatier, MD, PhD

Role: backup

Cathy CHIKHAOUI

Role: primary

+33142165873

Hassina Bouguerra

Role: backup

Philippe Charron, MD, PhD

Role: primary

Karim Wahbi, MD, PhD

Role: primary

Albert Hagege, MD, PhD

Role: primary

Frederic Taithe, MD

Role: primary

Romain Eschalier, MD, PhD

Role: backup

Frederic Anselme, MD, PhD

Role: primary

Sarah Souvannanorath, MD

Role: primary

Susana QUIJANO-ROY, MD, PhD

Role: primary

+33 147 10 78 90

Laforet, MD, PhD

Role: backup

Klaus Dieterich, MD

Role: primary

Isabelle DESGUERRE, MD, PhD

Role: primary

+33 144 49 58 36

Christine BARNERIAS, MD

Role: backup

+33 144 49 58 36

References

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Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforet P, Fayssoil A, Marijon E, Stojkovic T, Behin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Becane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boule S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagege A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhie MC, Muchir A, Nadaj-Pakleza A, Pereon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron P, Vigouroux C, Bonne G, Kumar S, Elliott P, Duboc D. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies. Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3.

Reference Type DERIVED
PMID: 31155932 (View on PubMed)

Other Identifiers

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CPP58-12, ID-RCB2012-A00791

Identifier Type: -

Identifier Source: org_study_id

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