0-TESTO COMPLETO.pdf - Fondazione Santa Lucia

Sezione III: Attività per progetti
Secondary Aim 4
Studies performed in the Operative Units will be focused:
1) to evaluate the brain plasticity secondary to the peripheral nerve
involvement and its relationship with rehabilitation of motor patterns;
2) to characterize the pain, that may be a variable reducing rehabilitation
efficacy and that should be a target of rehabilitation
(O.U.1, 6 will be involved).
GENERAL TRANSFERIBILITY AND POTENTIAL IMPACT OF RESULTS
This project perfectly fits the first topic on the present research call. In
fact, one of the major problem that patients affected by CMT face, is the
lack of knowledge regarding the aetiology and management of this hereditary
disorder. This normally happens in rare diseases, but in the case of
CMT, it is even more important, given the potentially high number of
patients affected within a single family, the young age of onset, the chronic
course. We expect that our project will improve the accessibility of CMT
patients and families to specialized centers for the diagnosis and rehabilitation
of this disease. We also expect a high compliance of CMT patients in
participating to the different stages of this project, as in the past they always
resulted very motivated when involved in rehabilitation programs. Another
important impact of our project will be the creation of a network of specialized
centers involved and well trained in the rehabilitation of CMT patients.
Through this project, the centers will communicate each other, share the
different methodologies and the results of the specific studies. More importantly,
reliable measures of clinical outcome, specific to CMT patients and
rehabilitation, will be established through the collaboration between the different
work units. Without standardized and validated measures of outcome,
it is impossible to evaluate the efficacy of any treatment, and this is
particularly true for physical medicine. Therefore, we also expect to transfer,
through this project, a scientific methodology which could be in the
future applied to the creation of rehabilitation networks for other rare disease,
even not of the neuromuscular system. Finally, through the organization
of periodic seminars to general physicians and pediatricians, territorial
physiatrist and neurologists, we plan to improve and disseminate the knowledge
about CMT and its etiology and management.
OUTPUTS OF THE PROJECT
After the first phase of the study the current condition of the access to
rehabilitation of patients affected by this rare disease will be available. At the
same time, after systematic evaluation of literature on the rehabilitation in
CMT and the determination of clear definitions and standards of practice for
rehabilitation, programs will be obtained in order to ensure clarity for
patients, families and referring professionals and consistent quality of patient
care. At the middle of the study the rehabilitation network will be arranged
732 2009