The Italian Neuromuscular Registry collects personal, genetic and clinical data of patients affected by neuromuscular diseases. It was born out of the need to organise and update this information for epidemiological and research purposes, in order to improve our knowledge of these diseases and speed up the development of new treatments.
The initiative is the result of an alliance between a number of patient associations and the Telethon Foundation, which together have formed the Association of the Italian Registry of Patients with Neuromuscular Diseases (Associazione del Registro), a legal entity that manages the Registry platform. Currently, the following patient organisations participate in the Registry Association: ACMT-Rete, AISLA, ASAMSI, Famiglie SMA and UILDM, together with the Telethon Foundation.
Data are being collected across several disease groups, with separate pathology databases currently covering patients with Charcot-Marie-Tooth disease (CMT), familial amyloid polyneuropathy (hATTR), muscular dystrophy and congenital myopathy, and spinal bulbar muscular atrophy (SBMA, also known as Kennedy disease). A registry for amyotrophic lateral sclerosis (ALS) has been developed as a pilot study and analysis of the results is ongoing to review the protocol and associated dataset.
International interactions
The Italian Neuromuscular Registry was created following international initiatives for neuromuscular patient registries, namely the Treat-NMD Global Registry for Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA) patients (databases no longer active on the Italian Neuromuscular Registry platform) and the International CMT Registry of the Inherited Neuropathy Consortium for CMT patients.