Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Recruiting now
Conditions studied: Laminopathies, Emerinopathies
In brief
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 facts
- Study ID
- NCT03058185
- Run by
- Pitié-Salpêtrière Hospital
- People needed
- 800
- Starts
- 2013-07-11
- Expected to finish
- 2033-07-11
- Last updated by the study team
- 2025-03-13
Who can join
Age: any. Sex: any. Healthy volunteers: not accepted.
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.
Where it is running
- Centre de référence maladies neuromusculaires,CHU d'Angers — Angers, Angers, France (enrolling)
- CHU Strasbourg — Strasbourg, Bas-Rhin, France (enrolling)
- CHU Marseille — Marseille, Bouches-du-Rhône, France (enrolling)
- CHU Caen — Caen, Calvados, France (enrolling)
- CHU Brest — Brest, Finistère, France (enrolling)
- CHU Nimes — Nîmes, Gard, France (enrolling)
- CHU Bordeaux — Bordeaux, Gironde, France (enrolling)
- Centre de Référence de Pathologie NeuroMusculaire, CHU Toulouse — Toulouse, Haute-Garonne, France (enrolling)
- CHU Montpelleir — Montpellier, Hérault, France (enrolling)
- CHU Rennes — Rennes, Ille-et-Vilaine, France (enrolling)
- CHU Tours — Tours, Indre-et-Loire, France (enrolling)
- Centre de référence des maladies neuromusculaires, CHRU Lille — Lille, Lille, France (enrolling)
- Laboratoire d'Explorations Fonctionnelle, CHU Nantes — Nantes, Loire-Atlantique, France (enrolling)
- Centre de référence des maladies neuromusculaires, CHU Lyon — Lyon, Lyon, France (enrolling)
- CHU Nancy — Nancy, Meurthe-et-Moselle, France (enrolling)
- Centre de référence maladies neuromusculaires ile de France, Hôpital Armand Trousseau — Paris, Paris, France (enrolling)
- I-Motion Pédiatrique, Hôpital Armand Trousseau — Paris, Paris, France (enrolling)
- Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine — Paris, Paris, France (enrolling)
- Centre de référence maladies neuromusculaires ile de France, Institut de myologie, GH Pitié-Salpêtrière — Paris, Paris, France (enrolling)
- Institut de cardiologie, GH Pitié-Salpêtrière — Paris, Paris, France (enrolling)
- Service de cardiologie, Hôpital Cochin — Paris, Paris, France (enrolling)
- Cardiologie et maladies vasculaires, Hôpital Européen Georges-Pompidou HEGP — Paris, Paris, France (enrolling)
- CHU Clermont-Ferrand — Clermont-Ferrand, Puy-de-Dôme, France (enrolling)
- CHU Rouen — Rouen, Seine-Maritime, France (enrolling)
- Centre Expert de Pathologie Neuromusculaire - Département de Pathologie — Créteil, Val-de-Marne, France (enrolling)
Full record on ClinicalTrials.gov
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