Development of an academic disease registry for spinal muscular atrophy

Eugenio Maria Mercuri*, Richard Finkel, Mariacristina Scoto, Susan Hall, Susan Eaton, Aisha Rashid, Julia Balashkina, Giorgia Coratti, Maria Carmela Pera, Salma Samsuddin, Matthew Civitello, Francesco Muntoni, Darryl C De Vivo, Basil T Darras, John Day, Jacqueline Montes, Allan Glanzmann, Amy Pasternack, Rachel Salazar, Sally Dunaway YoungTina Duong, Marika Pane, Beatrice Berti, Concetta Palermo, Daniela Leone, Annalia Frongia, Anna Lia Frongia, Laura Antonaci, Roberto De Sanctis, Sonia Messina, Enrico Bertini, Enrico Silvio Bertini, Giuseppe Vita, Claudio Bruno, Maria Sframeli, Valeria A Sansone, Emilio Albamonte, Adele D'Amico

*Corresponding author

Research output: Contribution to journalArticle


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. This paper describes the process leading to the development of the registry including the identification of the relevant data elements, the design of an electronic CRF with a shared data dictionary, the piloting of the first version and the definition of the final version. The registry will provide a central structure for conducting academic studies based on a much larger cohort of patients than those available in the individual networks. Due to the quality control of the data collected the registry can also be used for postmarketing purposes, allowing to share, in a transparent and controlled way, real-world data with pharmaceutical partners, drug regulatory agencies, and advocacy groups for better understanding of safety and effectiveness of new treatments.
Original languageEnglish
Pages (from-to)794-799
Number of pages6
JournalNeuromuscular Disorders
Publication statusPublished - 2019


  • Disease registry
  • Neuromuscular disorders
  • Spinal muscular atrophy


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