Development of an academic disease registry for spinal muscular atrophy

We report the development of a new disease registry on SMA as the result of a collaboration among three national networks in United States, Italy, and United Kingdom in partnership with a biotechnology company and with the support of advocacy groups.The aim of establishing a large collaborative registry within academic centers was to establish a structured but flexible system for collection of prospective, highly curated data that will deeply phenotype all patients with SMA and follow them longitudinally over several years.

Source: Neuromuscular Disorders - August 28, 2019 Category: Neurology Authors: Eugenio Mercuri, Richard Finkel, MariaCristina Scoto, Susan Hall, Susan Eaton, Aisha Rashid, Julia Balashkina, Giorgia Coratti, Maria Carmela Pera, Salma Samsuddin, Matthew Civitello, Francesco Muntoni, iSMAc group Source Type: research