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Lysosomal storage disorders are rare, monogenic diseases, with a progressive worsening course. Our perspective in the last years has become that of treating most of the patients, and thus modify the natural history of these diseases. Such a challenge can be met only with all the medical professionals who are in contact with the patients. To be effective, treatment has to be started as early as possible; therefore, patients must be identified at their first symptoms and be referred to the specialized centers as soon as possible.

In the 60s, Christian De Duve, Nobel Prize for having identified the lysosome, outlined the possibility of performing enzymatic replacement therapy (ERT). During the 70s, in vitro experiments on cultured fibroblasts demonstrated the efficacy of this approach. Twenty years later, this dream began to come true, with the start of ERT for patients with Gaucher disease. During the 90s , haematopoietic stem cell transplantation, another treatment for these diseases, achieved its consolidation and other ERTs were developed for other lysosomal storage disorders.

From the turn of the millennium, we are witnessing an extraordinary evolution of research aiming at defeating these terrible diseases. There are many therapeutic approaches, based on different principle: besides ERT and haematopoietic stem cell transplantation, treatments include substrate inhibition (upstream inhibition of the metabolic pathway), and the use small molecules with the function of pharmacological chaperones (enzyme enhancement therapy), able to rescue misfolded or unstable proteins.

Moreover, many experimental studies of gene therapy are in progress, and it will soon be possible to manipulate RNA, ribonucleic acid. Patients with lysosomal diseases, now, are not individuals searching for a diagnosis, but patients who must receive a very early diagnosis in order to benefit from effective treatment. Spreading information about new therapies is part of a strategy aiming to obtain that all the medical professionals commit the greatest effort to identifying patients, offering them the best protocols to reach a prompt diagnosis and specific treatments.
The first day of the Course will be dedicated to diagnostic issues, the second to current specific treatments and the third to the particular needs of follow-up in these patients, who have to be correctly understood in order to avoid errors or shortcomings in the overall therapeutic approach.