Development of an Italian Clinical Network for Spinal Muscular Atrophy

Although, at present, there still doesn't exist a cure for Spinal Muscular Atrophy (SMA), for the first time some therapeutic approaches with great potentials to improve the clinical course of the disease have been identified. Some of these approaches have already completed the preclinical phase and are entering the clinical phase. One of the biggest problems in the field of rare disorders like SMA is the need to conduct multi centric studies which are very often international, for the limited number of children present at each center. The proposed study has the objective to develop an Italian network of clinical centers expert in SMA. The network will involve the same 13 centers that are part of the national network for Duchenne muscular dystrophy and are responsible for the recently published longitudinal data on outcome measures in DMD and on natural history in congenital muscular dystrophies. Taking advantage of the existing network the proposal is to promote a similar format for SMA. The aim is to uniform the standards of care and use internationally used assessment measures to contribute to the international data collection. This will accelerate the process of standardization and improvement of the assessment measures to be used and at the same time will enable the Italian centers to participate in the forthcoming clinical trials. This process will take place by organizing a system that guarantees that: a) all tertiary neuromuscular centers receive the same training; b) all centers use the same assessments; c) data collection is rapid; d) a single data collection system is created to facilitate data entry and analysis (common data elements) associated to the existing SMA registry (www.registronmd.it), that at the moment has collected data on 350 patients with SMA.