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The ELODIE-MG project aims to create a national collection of biological samples from patients suffering from a rare disorder called Gaucher disease, to gain further knowledge of mechanisms and responses to specific treatments.
What is Gaucher disease?
Gaucher disease is a genetic disorder caused by a hereditary deficiency of the enzyme glucocerebrosidase (a lysosomal enzyme). It leads to an accumulation of glucocerebroside in cells, and particularly in macrophage cells called Gaucher cells (after the physician who originally described them). These cells are considered to be responsible for the disease affecting certain organs (bone marrow, spleen, liver, bones). The symptoms vary greatly, and range from slight to severe, at any time in life, from early childhood to adulthood. One particular and very rare form can also affect the nervous system. Approximately 1 person in 60,000 suffers from Gaucher disease worldwide, i.e. less than 10,000 people. Some 500 patients are currently numbered in France.
By using a synthetic enzyme, administered by perfusion, most symptoms can be controlled except for neurological disorders. However, the therapeutic responses vary from one patient to another and are regularly monitored, both biologically and on the internal organs and bones. The biological samples (blood, bone marrow, biopsies, etc.) are particularly valuable in the case of a rare disorder, as they enable studies to be done over a short period of time without waiting for the inclusion of a sufficient number of new patients, which can take several years. These samples are vital for research into new physio-pathological mechanisms, and to gain insight into the course of the illness and its response to treatments, with a view to optimizing is management.
The MBioLIMS BioBanking® software is vital in the running of the BRC-Auvergne. It is a reliable tool that offers real-time knowledge of the samples collected, management of relevant related data and full process traceability. This quality guarantee is vital for all the stakeholders, with a view to further development, in order to generate future benefits for patients who suffer from this rare disease
What is the ELODIE-MG project?
The ELODIE-MG project consists in setting up a multi-centre organisation to identify, store, record and centralise the samples of patients suffering from Gaucher disease in France, and thereby create a single biological collection of all the samples received by different clinical laboratories. This project is run under the stewardship of the CETG, a national group of experts in the disease.
A first development phase involves four specialised labs: Biological Haematology unit of the Estaing University Hospital in Clermont-Ferrand (Pr M. Berger); Inherited Metabolic Disorders and Neonatal Screening Unit, Centre for Biology East / Hospital Group East, HCL, Bron (Dr R. Froissart); Laboratory of Metabolic Biochemistry, Federative Institute of Biology of Toulouse (Pr T. Levade); and Laboratory of Biochemistry, Metabolomics and Proteomics, Necker-Enfants Malades Institute in Paris (Dr C. Caillaud).
The samples are recorded in the MBioLIMS BioBanking® software program by one of the four specialised labs. Thanks to this highly secure software, patient inclusion and consent management is centralised, and the biological samples and their related data are anonymized and managed. The samples are then transferred for long-term storage to the BRC-Auvergne which coordinates and manages the entire ELODIE-MG collection. This collection is integrated into the Gaucher disease Competence Centre (Pr M. Berger) (Reference Centre for Lysosomal diseases (Dr B. Héron), inherited metabolic disorders unit (Pr B. Chabrol)). Each patient is asked to give their informed consent.
The collection will be a source of samples for researchers working on projects selected by the CETG. The samples may also be sold for research conducted by organisations abroad. A second stage (2020) will consist in extending this organisation to any other specialised laboratory involved in diagnosing or monitoring this rare disease.
Pr Marc BERGER, coordinator of the BRC-Auvergne and President of the Gaucher Disease Treatment Evaluation Committee (CETG) said: "The MBioLIMS BioBanking® software is vital in the running of the BRC-Auvergne and for the creation of this national collection of patient samples. Thanks to cooperation between BRC-Auvergne and Modul-Bio, a functional, practical and intuitive interface has been developed between users in the centres and the MBioLIMS BioBanking® program installed at the University Hospital in Clermont-Ferrand. It is a reliable tool that offers real-time knowledge of the samples collected, management of relevant related data and full process traceability. This quality guarantee is vital for all the stakeholders, with a view to further development, in order to generate future benefits for patients who suffer from this rare disease".
The Biological Resource Centre Auvergne (BRC-A) is an operational platform with all the competences necessary to create a collection of human biological samples for research purposes, at the request of any researcher. All of the BRC-A's activities have been NF S 96-900-certified since April 2013. This standard guarantees the quality of the biological resources, and of the related data, as well as the traceability of every step (preparation, sample quality controls, storage, related data management, transfer and provision of samples). The BRC-A currently has 57,000 samples including 6,400 (280 patients) for the Elodie-MG collection. All the regulatory authorisations have been obtained to be able to provide a swift and optimal response to any request from a French or international team of researchers.