CMT National Registry: towards definition of standards of care and clinical trials

Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. We are developing a CMT National Registry, in the context of an International Registry, where we will collect clinical and genetic information on CMT disease and measure disease severity. There are many unresolved questions in the management and care of subjects affected by CMT. There is uncertainty about: disease course during pregnancy; prescription, perceived benefits and tolerability of foot orthotics and assistive devices; indications and results of surgery for skeletal deformities; safety for CMT people of general and local anaesthesia; occurrence of sleep disorders in CMT (which might be a cause of somnolence and fatigue). We are developing dedicated questionnaires to investigate all these aspects, through a formal process of generation of questionnaires which involves experts in the different implicated fields and the patients themselves, to select the items most meaningful for physicians and patients. We will also use already validated scales in the Italian language whenever available to investigate some aspects (scale assessing use of orthotics, foot pain, sleep, fatigue, anxiety and depression). Participants in the CMT National Registry will be asked to fill these self-reported questionnaires. We aim at collecting questionnaires from 500 affected subjects. Data will be then analyzed and will be important to give advice about pregnancy, orthotics, surgery, anaesthesia, sleep and fatigue in CMT. In the process of generating clinical measures to be used for clinical trials, we will also validate the Italian version of a scale of Quality of Life specific for CMT children (pCMTQoL) and administer it to Registry participants. It is important to define which is the best management and care of people with CMT, but there is a lot of work to do with this respect. This project aims at gaining information important for defining needs, disease burden and standards of care for CMT.