The Italian Neuromuscular Registry gathers personal, genetic and clinical data of patients affected by neuromuscular diseases. It was generated from the need to order and update this information for epidemiological and research purposes, for a better knowledge of these diseases and to accelerate the development of new treatments.
The project stems from the alliance between some Patient Associations and the Telethon Foundation, which together formed the Association of the Italian Register of Neuromuscular Disease patients, dedicated to the purpose. At present, the following Patient Organisations participate in the Registry Association: ACMT-Rete, AISLA, ASAMSI, Famiglie SMA and UILDM.
Data collection takes place on separate databases for pathology that currently concern patients with Duchenne Muscular Dystrophy (DMD) or Becker (BMD), Spinal Muscular Atrophy (SMA), Charcot Marie Tooth disease (CMT), Kennedy’s disease (Spinal bulbar Muscular Atrophy (SBMA, also called Kennedy disease), and Familial Amyloid Polyneuropathy (TTR-FAP). The database for Amyotrophic Lateral Sclerosis (ALS) is under development.
The Italian Neuromuscular Registry is linked to international initiatives of registries of neuromuscular patients; in particular, it is in contact with the Treat-NMD Global Registry for patients affected by DMD/BMD or SMA and with the International CMT Registry of the Inherited Neuropathy Consortium for patients with CMT.