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

Status: Recruiting
Location: See all (28) locations...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:

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

• Regular followup in France.

• Signed informed consent

Locations
Other Locations
France
Centre de référence maladies neuromusculaires,CHU d'Angers
RECRUITING
Angers
CHU Bordeaux
RECRUITING
Bordeaux
CHU Brest
RECRUITING
Brest
CHU Caen
RECRUITING
Caen
CHU Clermont-Ferrand
RECRUITING
Clermont-ferrand
Centre Expert de Pathologie Neuromusculaire - Département de Pathologie
RECRUITING
Créteil
Centre de référence des maladies neuromusculaires Ile de France, Hôpital Raymond Poincaré
RECRUITING
Garches
CHU Grenoble
RECRUITING
Grenoble
Centre de référence des maladies neuromusculaires, CHRU Lille
RECRUITING
Lille
Centre de référence des maladies neuromusculaires, CHU Lyon
RECRUITING
Lyon
CHU Marseille
RECRUITING
Marseille
CHU Montpelleir
RECRUITING
Montpellier
CHU Nancy
RECRUITING
Nancy
Laboratoire d'Explorations Fonctionnelle, CHU Nantes
RECRUITING
Nantes
CHU Nimes
RECRUITING
Nîmes
Cardiologie et maladies vasculaires, Hôpital Européen Georges-Pompidou HEGP
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
Centre de référence maladies neuromusculaires ile de France, Institut de myologie, GH Pitié-Salpêtrière
RECRUITING
Paris
I-Motion Pédiatrique, Hôpital Armand Trousseau
RECRUITING
Paris
Institut de cardiologie, GH Pitié-Salpêtrière
RECRUITING
Paris
Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine
RECRUITING
Paris
Service de cardiologie, Hôpital Cochin
RECRUITING
Paris
CHU Rennes
RECRUITING
Rennes
CHU Rouen
RECRUITING
Rouen
CHU Strasbourg
RECRUITING
Strasbourg
Centre de Référence de Pathologie NeuroMusculaire, CHU Toulouse
RECRUITING
Toulouse
CHU Tours
RECRUITING
Tours
Contact Information
Primary
Cathy Chikhaoui
k.chikhaoui@institut-myologie.org
+33142165873
Backup
Hassina Bouguerra
hassina.bouguerra@aphp.fr
+33142165873
Time Frame
Start Date: 2013-07-11
Estimated Completion Date: 2033-07-11
Participants
Target number of participants: 800
Authors
Stéphane Schaeffer
Sponsors
Collaborators: Institut National de la Santé Et de la Recherche Médicale, France, Assistance Publique - Hôpitaux de Paris, Institute of Myology
Leads: Pitié-Salpêtrière Hospital

This content was sourced from clinicaltrials.gov