A crucial tool for clinical trials
Creating databases involves collecting clinical and genetic information for each patient on a computer platform.
These databases are used to describe symptoms, mutations involved, evolution over time and variability from one patient to the next. For rare diseases, standard pooling of data from across the world means we can compare bigger patient cohorts.
These databases provide a crucial tool for clinical trials. They are useful throughout the trial, to define inclusion or evaluation criteria, find patients matching inclusion criteria with just a few clicks or compare the natural progression of the disease with the progress of patients treated using the therapeutic approach.
Génatlas, Orphanet, UMD-DMD
Understanding the issues involved, the French Muscular Dystrophy Association (AFM-Téléthon) has supported the preparation and/or development of several databases.
Génatlas: this database records and integrates the results of work on locating and identifying genes and diseases. On 5 March 2010, it included 22,466 genes and 434 phenotypes. Created in 1986, this database was supported by AFM-Téléthon from 1991 to 2006.
Orphanet: this European database concerns rare diseases (including neuromuscular diseases) and orphan medicinal products. Created in 1997, it has been supported by AFM-Téléthon since 1998.
UMD-DMD France: this database concerns mutations (universal mutation database: UMD) of the DMD gene identified in patients suffering from dystrophinopathy. Created in 1997, it has been supported by AFM-Téléthon since 1998.
And the others!
There are other databases available based on the same model:
- UMD-BIN1 (congenital centronuclear myopathy)
- UMD-CAPN3 (calpainopathies)
- UMD-COL6A1, UMD-COL6A2 and UMD-COL6A3 (myopathies linked to collagen VI deficiency)
- UMD-Emd (Emery Dreifuss muscular dystrophy)
- UMD-Duchenne/Becker (Jean-Claude Kaplan, Sylvie Tuffery-Giraud)
- UMD-Dynamin2 (Autosomal dominant centronuclear myopathy)
- UMD-DYSF (dysferlinopathies, Nicolas Lévy)
- UMD-FKRP (limb girdle myopathies with FKRP deficiency, Pascale Richard/Nicolas Lévy)
- UMD-LAMA2 (merosinopathies, Christophe Béroud)
- UMD-LMNA (laminopathies, Gisèle Bonne, Rabah Ben Yaou)
- UMD-MTM1 (congenital myotubular myopathy)
- UMD-SGCA (alpha sarcoglycanopathy)
- UMD-SGCG (sarcoglycanopathy - Andoni Urtizberea, Hafedh Haddad)
- UMD-SEPN1 (congenital rigid spine muscular dystrophy)
- UMD-SMN (spinal muscular atrophy)
- UMD-ZMPSTE24 (laminopathy)
There are also databases for:
- Steinert's myotonic dystrophy (Geneviève Gourdon/Bruno Eymard/Jack Puymirat),
- Facioscapulohumeral muscular dystrophy, FSH (Marc Jeanpierre),
- Natural history of SMA (Annie Barrois)
- Natural history of calpains (Andoni Urtizberea),
- Myasthenia (Tarek Sharshar)
- Acid maltase deficiency (Bruno Eymard/Pascal Laforêt),
- Charcot-Marie-Tooth disease (Eric Leguern)
- Congenital myopathies (Joël Lunardi)
- Mitochondrial myopathies (Anne Lombès) and periodic canalopathies/paralysis (Bertrand Fontaine).
Furthermore, AFM-Téléthon is supporting the development of a pilot database on leukodystrophies, coordinated by Odile Boepsflug-Tanguy (Clermont-Ferrand University Hospital, France).