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
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
| 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 |
| 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 |
| 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 |
| 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 |
