Clinical network and Registry for Trial Readiness in Spinal and Bulbar Muscle Atrophy

Spinal and Bulbar Muscle Atrophy (SBMA), a hereditary disorder affecting adult males, causes progressive weakness of limb muscles and variable disturbances of speech and swallowing. Potential therapies are being developed and tested to halt the neurotoxic effect on motoneurons and muscle cells of mutated androgen receptor, the responsible protein. Previous therapeutic trials failed also because of difficulties in conducting such studies, due to slowness of disease progression, and in measuring accurately patients' disability. The project aims at preparing for clinical trials, by building a collaborative network and a Registry, testing novel outcome measures and performing a natural history study. Three main centres in Italy with great experience in SBMA and motoneuron diseases, with the scientific support of several other centres, will create and maintain a Registry (within the existing Registry of Neuromuscular Disorders, www.registronmd.it) where SBMA patients register and their clinical information are collected in a de-identified manner. We aim at recruiting about 200 patients and follow them up to two years, gathering a minimal dataset of information and evaluating them over time with novel measures, according to a protocol devised in an international workshop. The overall aim of the project is to achieve trial readiness for future therapeutic trials in SBMA through a national and international effort. The Registry is able to accept other national and international centres and the patients’ evaluation will be conducted with similar protocols in different countries, strengthening the new International SBMA Consortium. The Registry will shorten time to recruitment in therapeutic studies and make more likely to run multinational trials in Italy. Results will be important to estimate SBMA epidemiology in Italy and define standards of care for SBMA patients. This study will improve SBMA recognition leading to earlier diagnosis