Résumé :
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The TREAT-NMD (Translational Research in Europe for the Assessment and Treatment of Neuromuscular Diseases) ‘network of excellence’ is funded by the European Union and aimed at improving treatment and finding cures for patients with neuromuscular disorders. The development of the TREAT-NMD UMD patients’ registries will allow identifying patients with respect to their genetic defect and clinical status. Duchenne-Becker muscular dystrophies and spinal muscular atrophy will be specifically targeted. The primary objective of these European patients’ registries is to facilitate the planning of appropriate clinical trials and supports the recruitment of patients. Data collection is performed either from a patient report filled out directly by the patient (or his legal representative) or from a professional report” filled out by a clinician and/or a geneticist. Three levels of data have been defined: (1) mandatory items (requested for patients’ inclusion into the database), (2) highly encouraged items (very important items but not requested for patient’s inclusion) and finally (3) optional items (useful for secondary purposes of the registries). The mandatory items contain patient’s personal data (encrypted), mutation name (reported according to the international nomenclature system) and clinical data (motor function, scoliosis surgery, steroid therapy (DMD only) and feeding function (SMA only)). In each national registry, curators validate the data in order to maintain high-quality data and to insure the respect of both nationals and European legislations. Authorized medical experts and researchers will have access to encrypted data if their research project fits the goals of TREAT-NMD and after approval by the TREAT-NMD global registry oversight committee. To our knowledge, this is the first example of such a large international initiative to build patients’ registries. In the next years, we will need to convert this try to speed up clinical trials development and a rapid enrollment of patients.
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