OPALE - Observatory of Patients with laminopathies and emerinopathies

Head :
Bonne Gisèle, Sorbonne Université - Inserm UMR974 - Centre de Recherche en Myologie
Wahbi Karim, Centre de Référence Pathologie Neuromusculaire Paris-Nord/Est/Ile de France - Service de Cardiologe Hopital Cochin

Last update : 11/06/2019 | Version : 3 | ID : 5054

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Métadonnées
Identification
General Aspects
Scientific investigator(s) (Contact)
Collaborations
Funding
Governance of the database
Additional contact
Type of database
Database objective
Population type
Dates
Size of the database
Data
Procedures
Promotion
Access
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General
Identification
Detailed name Observatory of Patients with laminopathies and emerinopathies
Sign or acronym OPALE
CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation CNIL, CCTIRS n°13.135, CPP n°58-12 (31/08/2012), ANSM n°ID RCB : 2012-A00791-42
General Aspects
Medical area Cardiology
Endocrinology and metabolism
Neurology
Pediatrics
Rare diseases
Pathology (details) Laminopathies and Emerinopathies
Health determinants Genetic
Keywords Natural history; muscular, cardiac, orthopaedic and metabolic involvements, joint contractures, cardiomyopathies, premature aging, progeria, respiratory, myopathies, lipodystrophies
Scientific investigator(s) (Contact)
Name of the director Bonne
Surname Gisèle
Address Sorbonne Université - Inserm UMR974, Institut de Myologie, G.H. Pitié-Salpêtrière ; 47, boulevard de l’Hôpital, 75 651 Paris Cedex 13 - France
Phone + 33 (0)1 42 16 57 23
Email g.bonne@institut-myologie.org
Unit Sorbonne Université - Inserm UMR974 - Centre de Recherche en Myologie
Organization INSERM - Institut National de la Santé et de la Recherche
Name of the director Wahbi
Surname Karim
Address Centre de Référence Pathologie Neuromusculaire Paris-Nord/Est/Ile de France, Centre constitutif Hôpitla Cochin, Service de cardiologie, 75014 Paris - France
Phone +33 (0)1 42 16 37 13
Email karim.wahbi@aphp.fr
Unit Centre de Référence Pathologie Neuromusculaire Paris-Nord/Est/Ile de France - Service de Cardiologe Hopital Cochin
Organization AP-HP
Collaborations
Participation in projects, networks and consortia Yes
Details French Network of Emery-Dreifuss muscular dystrophy and other nuclear envelope diseases
Funding
Funding status Mixed
Details Association Institut de Myologie, Inserm, AP-HP
Governance of the database
Sponsor(s) or organisation(s) responsible INSERM - Institut National de la Santé et de la Recherche Médicale
Organisation status Public
Sponsor(s) or organisation(s) responsible AP-HP
Organisation status Public
Sponsor(s) or organisation(s) responsible Association Institut de Myologie
Organisation status Private
Presence of scientific or steering committees Yes
Additional contact
Name of the contact Ben Yaou
Surname Rabah
Address Centre de Référence Pathologie Neuromusculaire Paris-Nord/Est/Ile de France, Service de Neurologie, G.H. Pitié-Salpêtrière ; 47, boulevard de l’Hôpital, 75 651 Paris Cedex 13 - France
Phone + 33 (0)1 42 16 57 23
Email r.benyaou@institut-myologie.org
Unit Pole Base de données, Institut de Myologie
Organization Association Institut de Myologie
Main features
Type of database
Type of database Study databases
Study databases (details) Longitudinal study (except cohorts)
Database recruitment is carried out by an intermediary A selection of health institutions and services
Database recruitment is carried out as part of an interventional study No
Database objective
Main objective to precise the natural history of musculrr, cardiac, respiratory, orthopaedic and metabolic involovements of patients suffering from laminopathies and emerinopathies.
to identify cardiovascular, neurologic and respiratory prognosis factors.
to identify obstetrical and perioperative complications related to laminopathies and emerinopathies.
to identify correlations between LMNA/EMD gene mutations and the observated phenotypes.
to have a repository ready for inclusion of patients in future therapeutic trials.
Inclusion criteria all patient carrying a LMNA or a EMD gene mutation, including the paediatric population, registered to Social Security Helathcare System.
Population type
Age Infant (28 days to 2 years)
Early childhood (2 to 5 years)
Childhood (6 to 13 years)
Adolescence (13 to 18 years)
Adulthood (19 to 24 years)
Adulthood (25 to 44 years)
Adulthood (45 to 64 years)
Elderly (65 to 79 years)
Population covered Sick population
Pathology G71 - Primary disorders of muscles
E88 - Other metabolic disorders
I42 - Cardiomyopathy
Gender Male
Woman
Geography area National
Detail of the geography area France
Data collection
Dates
Date of first collection (YYYY or MM/YYYY) 2000
Size of the database
Size of the database (number of individuals) < 500 individuals
Details of the number of individuals 320
Data
Database activity Current data collection
Type of data collected Clinical data
Paraclinical data
Biological data
Administrative data
Clinical data (detail) Direct physical measures
Medical registration
Paraclinical data (detail) imaging
Biological data (detail) blood and urine biological routine checkup, recorded along the followup of the patient
Administrative data (detail) First name initial, Last name initial, gender, date of birth, place of birth, medical file number, educational maximal level
Presence of a biobank No
Health parameters studied Health event/morbidity
Health event/mortality
Procedures
Data collection method the data entry will be performed by investigators of rare diseaes centers, together with clinical research assistants.
Participant monitoring Yes
Details on monitoring of participants along the standard followup of the patient
Links to administrative sources Yes
Linked administrative sources (detail) town council of birth place
Promotion and access
Promotion
Link to the document http://www.institut-myologie.org/
Access
Terms of data access (charter for data provision, format of data, availability delay) future publications, data access to investigators
Access to aggregated data Access on specific project only
Access to individual data Access on specific project only

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