Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)

Trial Information
Status: Recruiting
Location: See all (12) locations...
Study Type: Observational [Patient Registry]
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.

Am I eligible for this trial?
Participation Requirements
Sex:
All

• Presence of a proven pathogenic LMNA and/or EMD gene mutation

• Regular followup in France.

• Signed informed consent

Where is this trial taking place?
Other Locations
France
12 locations
Centre de référence maladies neuromusculaires,CHU d'Angers
Recruiting
Angers
CHU Bordeaux
Recruiting
Bordeaux
CHU Caen
Recruiting
Caen
Centre de référence des maladies neuromusculaires Ile de France, Hôpital Raymond Poincaré
Recruiting
Garches
Centre de référence des maladies neuromusculaires, CHRU Lille
Recruiting
Lille
Centre de référence des maladies neuromusculaires, CHU Lyon
Recruiting
Lyon
CHU Marseille
Recruiting
Marseille
Centre de référence maladies neuromusculaires ile de France, GH Pitié-Salpêtrière
Recruiting
Paris
Centre de référence maladies neuromusculaires ile de France, Hôpital Armand Trousseau
Recruiting
Paris
Centre de référence maladies neuromusculaires ile de France, Hôpital Necker Enfants malades
Recruiting
Paris
Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine
Recruiting
Paris
Service de cardiologie, Hôpital Cochin
Recruiting
Paris
Who do I contact about this trial?
Primary
Cathy CHIKHAOUI
k.chikhaoui@institut-myologie.org
+33142165873
When is this trial taking place?
Start Date: July 11, 2013
Estimated Completion Date: July 11, 2023
How many participants will be in this trial?
Target number of participants: 800
Who are the authors of this trial?

This content was sourced from clinicaltrials.gov