NCT03058185|RecruitingDMC
Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
OPALE
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OPALE
Sponsor study identifier
observational
800
1 country
29
Study Start
July 11, 2013
Actual (reported)Primary Completion
July 11, 2033
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
July 11, 2033
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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.
Registry-reported information. Elapsed time and enrollment totals alone do not measure study progress or recruitment pace.
July 11, 2033
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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Dates and qualifiers reported by the registry. Estimated dates do not confirm that a milestone has occurred.
July 11, 2013
Actual (reported)February 15, 2017
Actual (reported)February 20, 2017
Actual (reported)July 11, 2033
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
July 11, 2033
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
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
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
yearly up to 10 years
Patients with a proven pathogenic LMNA and/or EMD gene mutation
Centre de référence maladies neuromusculaires,CHU d'Angers
Angers, Angers, 49933, France
CHU Strasbourg
Strasbourg, Bas-Rhin, 67076, France
Charron P, Proukhnitzky J, Ben Yaou R, Richard P, Dembele M, Urtis M, Gossios T, Kumar S, Savvatis K, Stojkovic T, Anselme F, Maury P, Gandjbakhch E, Martins R, Sacher F, Trochu JN, Rouanet S, Lejeune J, Moubarak G, Fayssoil A, Marijon E, Laforet P, Behin A, Leonard-Louis S, Sole G, Labombarda F, Metay C, Quijano-Roy S, Dabaj I, Klug D, Habib G, Vantyghem MC, Chevalier P, Salort-Campana E, Sellal JM, Waintraub X, Zeppenfeld K, Amin AS, Kramarenko DR, Pinto YM, Landstrom A, Serio A, Chikhaoui C, Combes N, Barnerias C, Becane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Brehin AC, Cintas P, Roubille F, Lamblin N, de Groote P, Winum PF, Piriou N, Reant P, De Sandre-Giovannoli A, Masingue M, Desguerre I, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Fradin M, Gaborit B, Gay A, Hagege A, Isapof A, Jeru I, Lagrue E, Laugel V, Lazarus A, Leturcq F, Magot A, Manel V, Mercier S, Meune C, Michaud M, Minot-Myhie MC, Nadaj-Pakleza A, Pereon Y, Petit F, Praline J, Rollin A, Sarret C, Taithe F, Tard C, Tiffreau V, Fauchier L, Vatier C, Walther-Louvier U, Schurr B, Bobin P, El Hachmi M, Billon C, Fontaine B, Vigouroux C, Lakdawala NK, Arbustini E, Elliott P, Bonne G, Wahbi K. Laminopathies: natural history and risk prediction of heart failure. Eur Heart J. 2026 Jun 23;47(24):3135-3148. doi: 10.1093/eurheartj/ehag104.
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.
Karim Wahbi, MD, PhD
Assistance Publique - Hôpitaux de Paris
Gisele Bonne, PhD
Institut National de la Santé Et de la Recherche Médicale, France
Rabah Ben Yaou, MD
Institut de myologie
First Submitted
February 15, 2017
First Posted
February 20, 2017
Study Start
July 11, 2013
Actual (reported)Primary Completion
July 11, 2033
EstimatedContact the study team to confirm eligibility.
CHU Marseille
Marseille, Bouches-du-Rhône, 13000, France
CHU Caen
Caen, Calvados, 14000, France
CHU Brest
Brest, Finistère, 29609, France
CHU Nimes
Nîmes, Gard, 30029, France
CHU Bordeaux
Bordeaux, Gironde, 33000, France
Centre de Référence de Pathologie NeuroMusculaire, CHU Toulouse
Toulouse, Haute-Garonne, 31059, France
CHU Montpelleir
Montpellier, Hérault, 34295, France
CHU Rennes
Rennes, Ille-et-Vilaine, 35033, France
CHU Tours
Tours, Indre-et-Loire, 37044, France
Centre de référence des maladies neuromusculaires, CHRU Lille
Lille, Lille, 59037, France
Laboratoire d'Explorations Fonctionnelle, CHU Nantes
Nantes, Loire-Atlantique, 44093, France
Centre de référence des maladies neuromusculaires, CHU Lyon
Lyon, Lyon, 69002, France
CHU Nancy
Nancy, Meurthe-et-Moselle, 54000, France
Centre de référence maladies neuromusculaires ile de France, Hôpital Armand Trousseau
Paris, Paris, 75012, France
I-Motion Pédiatrique, Hôpital Armand Trousseau
Paris, Paris, 75012, France
Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine
Paris, Paris, 75012, France
Centre de référence maladies neuromusculaires ile de France, Institut de myologie, GH Pitié-Salpêtrière
Paris, Paris, 75013, France
Institut de cardiologie, GH Pitié-Salpêtrière
Paris, Paris, 75013, France
Service de cardiologie, Hôpital Cochin
Paris, Paris, 75014, France
Cardiologie et maladies vasculaires, Hôpital Européen Georges-Pompidou HEGP
Paris, Paris, 75015, France
CHU Clermont-Ferrand
Clermont-Ferrand, Puy-de-Dôme, 63000, France
CHU Rouen
Rouen, Seine-Maritime, 76000, France
Service de cardiologie, CHU Amiens
Amiens, Somme, 80000, France
Centre Expert de Pathologie Neuromusculaire - Département de Pathologie
Créteil, Val-de-Marne, 94010, France
Centre de référence des maladies neuromusculaires Ile de France, Hôpital Raymond Poincaré
Garches, Yvelines, France
CHU Grenoble
Grenoble, France
Centre de référence maladies neuromusculaires ile de France, Hôpital Necker Enfants malades
Paris, Île-de-France Region, 75000, France
Planned date reported by the registry; this milestone is not confirmed as achieved.
Study Completion
July 11, 2033
EstimatedPlanned date reported by the registry; this milestone is not confirmed as achieved.
Last Updated
September 21, 2026
Record last verified: 2026-09
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Source: ClinicalTrials.gov.
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