- Registre des patients thalassémiques en France (Registre qualifié)

Head :
Badens Catherine, Laboratoire de Génétique Moléculaire, Hôpital d’enfants de la Timone

Last update : 10/19/2015 | Version : 2 | ID : 248

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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 Registre des patients thalassémiques en France (Registre qualifié)
CNIL registration number, number and date of CPP agreement, AFSSAPS (French Health Products Safety Agency) authorisation CNIL 04-1396 (30/11/2004)
General Aspects
Medical area Hematology
Internal medicine
Pediatrics
Rare diseases
Health determinants Genetic
Keywords CohortClinical research
Scientific investigator(s) (Contact)
Name of the director Badens
Surname Catherine
Address Laboratoire de Génétique Moléculaire, Hôpital d’enfants de la Timone, 13385 Marseille cedex 5
Phone + 33 (0)4 91 38 77 87
Email catherine.badens@ap-hm.fr
Unit Laboratoire de Génétique Moléculaire, Hôpital d’enfants de la Timone
Organization Assistance Publique-Hôpitaux de
Collaborations
Funding
Funding status Public
Details Le centre de référence Thalassémies, une subvention INVS/INSERM pour 2009, 2010, 2011 et 2012 dans le cadre de la labellisation des registres maladies rares.
Governance of the database
Sponsor(s) or organisation(s) responsible Assistance Publique-Hôpitaux de Marseille
Organisation status Public
Additional contact
Main features
Type of database
Type of database Morbidity registers
Additional information regarding sample selection. Cases are identified from the following structures-sources:
- Pediatric, pediatric hematology, hematology and internal medicine departments
-Hematopoietic stem cell transplant departments
-The 4 neonatal screening laboratories for sickle-cell anemia
- French blood centers
-Accredited molecular genetics laboratories for diagnosing hemoglobin anomalies
Cases are validated by Dr Thuret before entry, with the attending physician being contacted when necessary.
Database objective
Main objective -Obtain national epidemiological data on the disease, particularly its morbidity and, over the longer term, its mortality, which reflect the quality of overall patient care
-Monitor treatment trends over time - especially the increasing use of orally administered active chelators and the spread of new techniques for evaluating tissue overload by heart and liver MRIs.
-Compare conventional treatment results combining transfusions and iron chelation with those obtained from hematopoietic stem cell transplants.
-Conduct more basic research projects
Inclusion criteria Beta-thalassemias (TM) major and intermediate (TI), including HbE/thalassemia composite hereterozygosity and thalassemia patients who have had a HSC transplant.
Diagnosis of a severe form of beta-thalassemia is formally established on the basis of data from a biochemical study of hemoglobin with no real differential diagnosis. Distinguishing between thalassemia major and intermediate requires the combination of 3 consensual criteria:
• for TM: Severe anemia indicating the setup of a systematic transfusion routine (at least 8 transfusions/year) before the age of 4.
• for TI: Moderate or medium intensity anemia that have no or only occasional need for transfusion.
The date and circumstances of the diagnosis are asked for upon inclusion and the characteristics of the transfusion treatment upon inclusion and when each follow-up sheet is completed. Identification of the beta-thalassemia mutations or type of beta 0 or beta + mutation are available in most cases, allowing for a complementary approach - even if the TM or TI diagnosis retains a clinical definition. HbE/thalassemia composite hereterozygosity is of biological definition (biochemical or molecular) and can lead to an intermediate or major form of thalassemia: as a result they are subject to the same classification according to the same clinical criteria (age at diagnosis and transfusion needs).
Population type
Age Newborns (birth to 28 days)
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
Gender Male
Woman
Geography area National
Detail of the geography area France
Data collection
Dates
Date of first collection (YYYY or MM/YYYY) 2005
Size of the database
Size of the database (number of individuals) [500-1000[ individuals
Details of the number of individuals 287 (2008)479 (2010)515 (2012)
Data
Database activity Current data collection
Type of data collected Clinical data
Biological data
Clinical data (detail) Direct physical measures
Biological data (detail) examination of the medical record
Presence of a biobank Yes
Contents of biobank Cell lines
DNA
Details of biobank content We offer to store a DNA sample, and possibly a cell line for each patient included in the registry, at the biological resource center (CRB) in Marseilles. There are currently some one hundred samples stored in this collection.
Health parameters studied Health event/morbidity
Health event/mortality
Others
Other (detail) Professional activities or schooling
Procedures
Data collection method Inclusion or follow-up sheet posted by standard delivery to Marseilles. The data is then entered into the database before being validated.
Participant monitoring Yes
Details on monitoring of participants A follow-up sheet comprising the same items as the inclusion sheet, along with noting down of the patient's death when it arises and cause of death, is sent to clinicians every 18 months.
Links to administrative sources No
Promotion and access
Promotion
Link to the document http://www.chu-lyon.fr/web/2652
Link to the document http://www.haematologica.org/cgi/content/full/95/5/724
Link to the document http://tinyurl.com/PUBMED-RPT
Description Liste des publications dans Pubmed
Access
Terms of data access (charter for data provision, format of data, availability delay) Results access procedure: Publications and scientific communications at conferences
Data access procedure for external teams: a request must be submitted to the registry manager (C. Badens) and to the 2 coordinators of the Thalassemia reference center (I. Thuret and C. Pondarré). Acceptance criteria currently being defined.
Access to aggregated data Access on specific project only
Access to individual data Access on specific project only

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