Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
OPALE
1 other identifier
observational
800
1 country
28
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.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Jul 2013
Longer than P75 for all trials
28 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
Click on a node to explore related trials.
Study Timeline
Key milestones and dates
Study Start
First participant enrolled
July 11, 2013
CompletedFirst Submitted
Initial submission to the registry
February 15, 2017
CompletedFirst Posted
Study publicly available on registry
February 20, 2017
CompletedPrimary Completion
Last participant's last visit for primary outcome
July 11, 2033
ExpectedStudy Completion
Last participant's last visit for all outcomes
July 11, 2033
March 13, 2025
March 1, 2025
20 years
February 15, 2017
March 10, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (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
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
Eligibility Criteria
Patients with a proven pathogenic LMNA and/or EMD gene mutation
You may qualify if:
- Presence of a proven pathogenic LMNA and/or EMD gene mutation
- Regular followup in France.
- Signed informed consent
You may not qualify if:
- Refusal to sign an informed consent.
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Pitié-Salpêtrière Hospitallead
- Institute of Myologycollaborator
- Assistance Publique - Hôpitaux de Pariscollaborator
- Institut National de la Santé Et de la Recherche Médicale, Francecollaborator
Study Sites (28)
Centre de référence maladies neuromusculaires,CHU d'Angers
Angers, Angers, 49933, France
CHU Strasbourg
Strasbourg, Bas-Rhin, 67076, France
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
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
Related Publications (1)
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.
PMID: 31155932DERIVED
Related Links
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Karim Wahbi, MD, PhD
Assistance Publique - Hôpitaux de Paris
- PRINCIPAL INVESTIGATOR
Gisele Bonne, PhD
Institut National de la Santé Et de la Recherche Médicale, France
- PRINCIPAL INVESTIGATOR
Rabah Ben Yaou, MD
Institut de myologie
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE ONLY
- Time Perspective
- PROSPECTIVE
- Target Duration
- 10 Years
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Clinical Professor-Neuromuscular Unit
Study Record Dates
First Submitted
February 15, 2017
First Posted
February 20, 2017
Study Start
July 11, 2013
Primary Completion (Estimated)
July 11, 2033
Study Completion (Estimated)
July 11, 2033
Last Updated
March 13, 2025
Record last verified: 2025-03
Data Sharing
- IPD Sharing
- Will not share