Observatoire Des Patients Atteints De Laminopathies Et Emerinopathies (Observatory for PAtients with Laminopathies and Emerinopathies)

Recruiting

• Conditions: Emerinopathies; Laminopathies

• Registration Number: NCT03058185
• Lead Sponsor: 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.

Detailed Description

Not available

Study Timeline

• Study Start: 2013-07-11
• Study First Submitted: 2017-02-15
• Study First Submitted QC: 2017-02-15
• Study First Posted: 2017-02-20
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-10
• Last Update Posted: 2025-03-13
• Primary Completion: 2033-07-11
• Study Completion: 2033-07-11

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 800

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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	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

Trial Locations

Locations (28)

Centre de référence des maladies neuromusculaires, CHRU Lille; 🇫🇷 Lille, France

Centre de référence des maladies neuromusculaires, CHU Lyon; 🇫🇷 Lyon, France

Centre de référence maladies neuromusculaires ile de France, Hôpital Armand Trousseau; 🇫🇷 Paris, France

I-Motion Pédiatrique, Hôpital Armand Trousseau; 🇫🇷 Paris, 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; 🇫🇷 Nimes, Gard, France

CHU Bordeaux; 🇫🇷 Bordeaux, Gironde, France

Centre de Référence de Pathologie NeuroMusculaire, CHU Toulouse; 🇫🇷 Toulouse, Haute-Garonne, France

CHU Montpelleir; 🇫🇷 Montpellier, Hérault, France

Centre de référence maladies neuromusculaires ile de France, Hôpital Necker Enfants malades; 🇫🇷 Paris, Ile de France, France

CHU Rennes; 🇫🇷 Rennes, Ille-et-Vilaine, France

CHU Tours; 🇫🇷 Tours, Indre-et-Loire, France

Laboratoire d'Explorations Fonctionnelle, CHU Nantes; 🇫🇷 Nantes, Loire-Atlantique, France

CHU Nancy; 🇫🇷 Nancy, Meurthe-et-Moselle, 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

Centre de référence maladies neuromusculaires,CHU d'Angers; 🇫🇷 Angers, France

CHU Grenoble; 🇫🇷 Grenoble, France

Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine; 🇫🇷 Paris, France

Centre de référence maladies neuromusculaires ile de France, Institut de myologie, GH Pitié-Salpêtrière; 🇫🇷 Paris, France

Institut de cardiologie, GH Pitié-Salpêtrière; 🇫🇷 Paris, France

Service de cardiologie, Hôpital Cochin; 🇫🇷 Paris, France

Cardiologie et maladies vasculaires, Hôpital Européen Georges-Pompidou HEGP; 🇫🇷 Paris, France