Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Laminopathies, Emerinopathies. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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.
Primary outcome measures
- 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 [Time frame: yearly up to 10 years]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
France · 28 centers
- Centre de référence maladies neuromusculaires,CHU d'Angers — Angers
- CHU Strasbourg — Strasbourg
- CHU Marseille — Marseille
- CHU Caen — Caen
- CHU Brest — Brest
- CHU Nimes — Nîmes
- CHU Bordeaux — Bordeaux
- Centre de Référence de Pathologie NeuroMusculaire, CHU Toulouse — Toulouse
- … and 20 more centers
Publications
- 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 PMID 41790128
- 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, Ma PMID 31155932
Identifiers
NCT: NCT03058185 · CPP58-12, ID-RCB2012-A00791