Informations générales (source: ClinicalTrials.gov)
Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies) (OPALE)
Observational [Patient Registry]
Pitié-Salpêtrière Hospital (Voir sur ClinicalTrials)
juillet 2013
juillet 2033
24 septembre 2024
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.
Etablissements
| Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| AP-HP - Hôpital Armand Trousseau-La Roche Guyon | Arnaud Isapof, MD | Contact (sur clinicalTrials) | |||
| AP-HP - Hôpital Europeen Georges Pompidou | Albert Hagege, MD, PhD | Contact (sur clinicalTrials) | |||
| AP-HP - Hôpital Necker-Enfants Malades | Isabelle DESGUERRE, MD, PhD | Contact (sur clinicalTrials) | |||
| AP-HP - Hôpital Saint Antoine | Corinne VIGOUROUX, MD, PhD | Contact (sur clinicalTrials) | |||
| GPE HOSP COCHIN SAINT VINCENT DE PAUL | Karim Wahbi, MD, PhD | Contact (sur clinicalTrials) | |||
| IFSI DE L'HÔPITAL RAYMOND POINCARÉ | Susana QUIJANO-ROY, MD, PhD | Contact (sur clinicalTrials) | |||
| Les établissements hors Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| Centre de référence des maladies neuromusculaires, CHRU Lille - 59037 - Lille - France | Marie-Christine Vantyghem, MD | Contact (sur clinicalTrials) | |||
| Centre de référence des maladies neuromusculaires, CHU Lyon - 69002 - Lyon - France | Françoise Bouhour, MD | Contact (sur clinicalTrials) | |||
| Centre de référence maladies neuromusculaires,CHU d'Angers - 49933 - Angers - France | Julien Durigneux, MD | Contact (sur clinicalTrials) | |||
| Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| Centre de Référence de Pathologie NeuroMusculaire, CHU Toulouse - 31059 - Toulouse - Haute-Garonne - France | Pascal Cintas, MD | Contact (sur clinicalTrials) | |||
| Centre de référence maladies neuromusculaires ile de France, GH Pitié-Salpêtrière - 75013 - Paris - France | Cathy CHIKHAOUI | Contact (sur clinicalTrials) | |||
| Centre Expert de Pathologie Neuromusculaire - Département de Pathologie - 94010 - Créteil - Val-de-Marne - France | Sarah Souvannanorath, MD | Contact (sur clinicalTrials) | |||
| CHU Bordeaux - 33000 - Bordeaux - Gironde - France | Guilhem SOLE, MD | Contact (sur clinicalTrials) | |||
| CHU Brest - 29609 - Brest - Finistère - France | Jean-Baptiste Noury, MD | Contact (sur clinicalTrials) | |||
| CHU Caen - 14000 - Caen - Calvados - France | Fabien Labombarda, MD, PhD | Contact (sur clinicalTrials) | |||
| CHU Clermont-Ferrand - 63000 - Clermont-Ferrand - Puy-de-Dôme - France | Frederic Taithe, MD | Contact (sur clinicalTrials) | |||
| CHU Grenoble - Grenoble - France | Klaus Dieterich, MD | Contact (sur clinicalTrials) | |||
| CHU Marseille - 13000 - Marseille - Bouches-du-Rhône - France | Anna Chiara DE SANDRE-GIOVANNOLI, Md, PhD | Contact (sur clinicalTrials) | |||
| CHU Montpelleir - 34295 - Montpellier - Hérault - France | Ulrike Walther-Louvier, MD | Contact (sur clinicalTrials) | |||
| CHU Nancy - 54000 - Nancy - Meurthe-et-Moselle - France | Maud Michaud | Contact (sur clinicalTrials) | |||
| CHU Nimes - 30029 - Nimes - Gard - France | Pierre François Winum, MD, PhD | Contact (sur clinicalTrials) | |||
| CHU Rennes - 35033 - Rennes - Ille-et-Vilaine - France | Marie Christine Minot-Mihye, MD | Contact (sur clinicalTrials) | |||
| CHU Rouen - 76000 - Rouen - Seine-Maritime - France | Frederic Anselme, MD, PhD | Contact (sur clinicalTrials) | |||
| CHU Strasbourg - 67076 - Strasbourg - Bas-Rhin - France | Aleksandra Nadaj-Pakleza, MD | Contact (sur clinicalTrials) | |||
| CHU Tours - 37044 - Tours - Indre-et-Loire - France | Dominique Babuty, MD, PhD | Contact (sur clinicalTrials) | |||
| Institut de cardiologie, GH Pitié-Salpêtrière - 75013 - Paris - France | Philippe Charron, MD, PhD | Contact (sur clinicalTrials) | |||
| Laboratoire d'Explorations Fonctionnelle, CHU Nantes - 44093 - Nantes - Loire-Atlantique - France | Yann Pereon, MD | Contact (sur clinicalTrials) | |||
Critères
Tous
Inclusion Criteria:
- Presence of a proven pathogenic LMNA and/or EMD gene mutation
- Regular followup in France.
- Signed informed consent
- Presence of a proven pathogenic LMNA and/or EMD gene mutation
- Regular followup in France.
- Signed informed consent
-Refusal to sign an informed consent.