Neuromuscular diseases are a very heterogeneous group of neurological diseases but unit interest is peripheral neuropathies and in particular those related to the immune system alteration. In this department a patient affected of peripheral neuropathies can find full diagnostic tools (from neurophysiologic to neuropathological studies including sural nerve biopsies, motor biopsies and skin biopsies, from routine haematological exams to immunological ones). Patients so characterized can have the best therapies from the classical therapies to the innovative ones (off-label therapies and clinical trials) in order to improve our capability to modifying the natural history of these peripheral neuropathies in particular those cause by immunity disorders.
In the last five years, Peripheral neuropathies Unit studied the efficacy of subcutaneous immunoglobulins instead of IVIG in the treatment of CIDP (chronic inflammatory demyelinating poly radiculopathy). Only 2/3 patients respond to first line treatment (IGIV or steroids) so this unit did clinical studies in order to investigate other immune modulating or immuno-suppressive therapies with an open multicentric study to evaluate the immunosuppressive therapy in CIDP patients.
The unit participated to a multicentric international double blind clinical trial in order to investigated the possible good effect of fingolimod, a promising drug used in multiple sclerosis, and demonstrated in a pilot study the efficacy of a Mab (rituximab) in non-responder patients. This pilot study let the group begin a more large study about the possible beneficial role of rituximab in CIDP.
The group participates to a database for MMN (multifocal motor neuropathy), a rarest peripheral nerve disease once considered as a subgroup of CIDP, to the Italian CIDP register and an international Guillain Barrè register, in order to increase our better knowledge of the natural history of these diseases.
The unit researchers are looking for symptomatic therapies too. They studied a new FKT approach in ataxic patients affected by peripheral neuropathies. All these clinical trials are organized in different experimental designs from controlled multi centric trials to local observational and retrospective studies.
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