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Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Sponsor: Pitié-Salpêtrière Hospital
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.
Key Details
Gender
All
Age Range
Any - Any
Study Type
OBSERVATIONAL
Enrollment
800
Start Date
2013-07-11
Completion Date
2033-07-11
Last Updated
2025-03-13
Healthy Volunteers
No
Conditions
Locations (28)
Centre de référence maladies neuromusculaires,CHU d'Angers
Angers, Angers, France
CHU Strasbourg
Strasbourg, Bas-Rhin, France
CHU Marseille
Marseille, Bouches-du-Rhône, France
CHU Caen
Caen, Calvados, France
CHU Brest
Brest, Finistère, France
CHU Nimes
Nîmes, Gard, France
CHU Bordeaux
Bordeaux, Gironde, France
Centre de Référence de Pathologie NeuroMusculaire, CHU Toulouse
Toulouse, Haute-Garonne, France
CHU Montpelleir
Montpellier, Hérault, France
CHU Rennes
Rennes, Ille-et-Vilaine, France
CHU Tours
Tours, Indre-et-Loire, France
Centre de référence des maladies neuromusculaires, CHRU Lille
Lille, Lille, France
Laboratoire d'Explorations Fonctionnelle, CHU Nantes
Nantes, Loire-Atlantique, France
Centre de référence des maladies neuromusculaires, CHU Lyon
Lyon, Lyon, France
CHU Nancy
Nancy, Meurthe-et-Moselle, France
Centre de référence maladies neuromusculaires ile de France, Hôpital Armand Trousseau
Paris, Paris, France
I-Motion Pédiatrique, Hôpital Armand Trousseau
Paris, Paris, France
Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine
Paris, Paris, France
Centre de référence maladies neuromusculaires ile de France, Institut de myologie, GH Pitié-Salpêtrière
Paris, Paris, France
Institut de cardiologie, GH Pitié-Salpêtrière
Paris, Paris, France
Service de cardiologie, Hôpital Cochin
Paris, Paris, France
Cardiologie et maladies vasculaires, Hôpital Européen Georges-Pompidou HEGP
Paris, Paris, France
CHU Clermont-Ferrand
Clermont-Ferrand, Puy-de-Dôme, France
CHU Rouen
Rouen, Seine-Maritime, France
Centre Expert de Pathologie Neuromusculaire - Département de Pathologie
Créteil, Val-de-Marne, 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, France