Clinical trial NCT03058185: Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Official title: Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Laminopathies
Emerinopathies
Keywords: Lamin A/C
LMNA
Emerin
EMD
Lead sponsor: Pitié-Salpêtrière Hospital
Sponsor class: OTHER
Collaborators: name: Institute of Myology
name: Assistance Publique - Hôpitaux de Paris
name: Institut National de la Santé Et de la Recherche Médicale, France
First posted: 2017-02-20
Enrollment: 800
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_ONLY
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with a proven pathogenic LMNA and/or EMD gene mutation

Brief 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 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.

Primary outcomes:
measure: 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
timeFrame: yearly up to 10 years
Secondary outcomes:
Other outcomes:
Locations:
city: Strasbourg
country: France
facility: CHU Strasbourg
state: Bas-Rhin
city: Marseille
country: France
facility: CHU Marseille
state: Bouches-du-Rhône
city: Caen
country: France
facility: CHU Caen
state: Calvados
city: Brest
country: France
facility: CHU Brest
state: Finistère
city: Nimes
country: France
facility: CHU Nimes
state: Gard
city: Bordeaux
country: France
facility: CHU Bordeaux
state: Gironde
city: Toulouse
country: France
facility: Centre de Référence de Pathologie NeuroMusculaire, CHU Toulouse
state: Haute-Garonne
city: Montpellier
country: France
facility: CHU Montpelleir
state: Hérault
city: Paris
country: France
facility: Centre de référence maladies neuromusculaires ile de France, Hôpital Necker Enfants malades
state: Ile de France
city: Rennes
country: France
facility: CHU Rennes
state: Ille-et-Vilaine
city: Tours
country: France
facility: CHU Tours
state: Indre-et-Loire
city: Nantes
country: France
facility: Laboratoire d'Explorations Fonctionnelle, CHU Nantes
state: Loire-Atlantique
city: Nancy
country: France
facility: CHU Nancy
state: Meurthe-et-Moselle
city: Clermont-Ferrand
country: France
facility: CHU Clermont-Ferrand
state: Puy-de-Dôme
city: Rouen
country: France
facility: CHU Rouen
state: Seine-Maritime
city: Créteil
country: France
facility: Centre Expert de Pathologie Neuromusculaire - Département de Pathologie
state: Val-de-Marne
city: Garches
country: France
facility: Centre de référence des maladies neuromusculaires Ile de France, Hôpital Raymond Poincaré
state: Yvelines
city: Angers
country: France
facility: Centre de référence maladies neuromusculaires,CHU d'Angers
city: Grenoble
country: France
facility: CHU Grenoble
city: Lille
country: France
facility: Centre de référence des maladies neuromusculaires, CHRU Lille
city: Lyon
country: France
facility: Centre de référence des maladies neuromusculaires, CHU Lyon
city: Paris
country: France
facility: Centre de référence maladies neuromusculaires ile de France, Hôpital Armand Trousseau
city: Paris
country: France
facility: I-Motion Pédiatrique, Hôpital Armand Trousseau
city: Paris
country: France
facility: Service d'endocrinologie, diabétologie et endocrinologie de la reproduction, Hôpital Saint Antoine
city: Paris
country: France
facility: Centre de référence maladies neuromusculaires ile de France, Institut de myologie, GH Pitié-Salpêtrière
city: Paris
country: France
facility: Institut de cardiologie, GH Pitié-Salpêtrière
city: Paris
country: France
facility: Service de cardiologie, Hôpital Cochin
city: Paris
country: France
facility: Cardiologie et maladies vasculaires, Hôpital Européen Georges-Pompidou HEGP
Study officials:
affiliation: Assistance Publique - Hôpitaux de Paris
name: Karim Wahbi, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Institut National de la Santé Et de la Recherche Médicale, France
name: Gisele Bonne, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Institut de myologie
name: Rabah Ben Yaou, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Becane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boule S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagege A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhie MC, Muchir A, Nadaj-Pakleza A, Pereon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron P, Vigouroux C, Bonne G, Kumar S, Elliott P, Duboc D. Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies. Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3.