TY - JOUR
T1 - Development of an academic disease registry for spinal muscular atrophy
AU - Mercuri, Eugenio Maria
AU - Finkel, Richard
AU - Scoto, Mariacristina
AU - Hall, Susan
AU - Eaton, Susan
AU - Rashid, Aisha
AU - Balashkina, Julia
AU - Coratti, Giorgia
AU - Pera, Maria Carmela
AU - Samsuddin, Salma
AU - Civitello, Matthew
AU - Muntoni, Francesco
AU - De Vivo, Darryl C
AU - Darras, Basil T
AU - Day, John
AU - Montes, Jacqueline
AU - Glanzmann, Allan
AU - Pasternack, Amy
AU - Salazar, Rachel
AU - Dunaway Young, Sally
AU - Duong, Tina
AU - Pane, Marika
AU - Berti, Beatrice
AU - Palermo, Concetta
AU - Leone, Daniela
AU - Frongia, Annalia
AU - Frongia, Anna Lia
AU - Antonaci, Laura
AU - De Sanctis, Roberto
AU - Messina, Sonia
AU - Bertini, Enrico
AU - Bertini, Enrico Silvio
AU - Vita, Giuseppe
AU - Bruno, Claudio
AU - Sframeli, Maria
AU - Sansone, Valeria A
AU - Albamonte, Emilio
AU - D'Amico, Adele
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
KW - Disease registry
KW - Neuromuscular disorders
KW - Spinal muscular atrophy
KW - Disease registry
KW - Neuromuscular disorders
KW - Spinal muscular atrophy
UR - http://hdl.handle.net/10807/182741
U2 - 10.1016/j.nmd.2019.08.014
DO - 10.1016/j.nmd.2019.08.014
M3 - Article
SN - 0960-8966
VL - 29
SP - 794
EP - 799
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
ER -