CONSTRUCTION OF A DATABASE FOR A NATION-WIDE ITALIAN COLLABORATIVE NETWORK OF MITOCHONDRIAL DISEASES

The terms “mitochondrial encephalomyopathy” and “mitochondrial disease” (MD) indicate a group of diseases due to defects of the mitochondrial respiratory chain, with defect in energy production and dysfunction of several tissues and organs, mainly brain, skeletal muscle and heart. In spite of the extraordinary progress in the understanding of the biochemical and molecular bases of the MD, therapeutic options are still very limited, and mostly symptomatic. For rare diseases, small groups of patients represent the major impediment to progress in research and care. This limitation might be overcome by a patient register which will help a better understanding of the clinical patterns and of the natural history of these pathologies. We will establish an Italian network of clinical centers – mainly neurologists and neuropaediatricians - with expertise on MD, and we will setup a web-based database which will contemplate also longitudinal studies. These steps are necessary to better understand the natural history of the MD and, finally, to improve the management of these disorders.