Pubblicazioni

Autori:

Balestrini, Simona; Doccini, Viola; Giometto, Sabrina; Lucenteforte, Ersilia; De Masi, Salvatore; Giarola, Elisa; Brambilla, Isabella; Pieroni, Federica; Perulli, Marco; Battaglia, Domenica; Specchio, Nicola; Ragona, Francesca; Granata, Tiziana; Pellacani, Simona; Ferrari, Annarita; Marini, Carla; Matricardi, Sara; Cesaroni, Elisabetta; Giordano, Lucio; Accorsi, Patrizia; Sciruicchio, Vittorio; Tinuper, Paolo; Messana, Tullio; Russo, Angelo; Pruna, Dario; Nosadini, Margherita; De Giorgis, Valentina; Caputo, Davide; Pellegrin, Serena; Lo Barco, Tommaso; Darra, Francesca; Dalla Bernardina, Bernardo; Guerrini, Renzo

Titolo:

A registry for Dravet syndrome: The Italian experience

Anno:

2023

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Referee:

Sì

Nome rivista:

EPILEPSIA OPEN

ISSN Rivista:

2470-9239

Intervallo pagine:

517-534

Parole chiave:

SCN1A; epilepsy syndrome; natural history; rare disease; registry

Breve descrizione dei contenuti:

Objectives: We describe the Residras registry, dedicated to Dravet syndrome (DS) and to other phenotypes related to SCN1A mutations, as a paradigm of registry for rare and complex epilepsies. Our primary objectives are to present the tools and framework of the integrative platform, the main characteristics emerging from the patient cohort included in the registry, with emphasis on demographic, clinical outcome, and mortality. Methods: Standardized data of enrolled pediatric and adult patients were collected in 24 Italian expert centers and regularly updated at least on a yearly basis. Patients were prospectively enrolled, at registry starting, but historical retrospective data were also included. Results: At present, 281 individuals with DS and a confirmed SCN1A mutation are included. Most patients have data available on epilepsy (n = 263) and their overall neurological condition (n = 255), based on at least one follow-up update. Median age at first clinical assessment was 2 years (IQR 0-9) while at last follow-up was 11 years (IQR 5-18.5). During the 7-year activity of the registry, five patients died resulting in a mortality rate of 1.84 per 1000-person-years. When analyzing clinical changes over the first 5-year follow-up, we observed a significant difference in cognitive function (P < 0.001), an increased prevalence of behavioral disorders including attention deficit (P < 0.001), a significant worsening of language (P = 0.001), and intellectual disability (P < 0.001). Significance: The Residras registry represents a large collection of standardized national data for the DS population. The registry platform relies on a shareable and interoperable framework, which promotes multicenter high-quality data collection. In the future, such integrated platform may represent an invaluable asset for easing access to cohorts of patients that may benefit from clinical trials with emerging novel therapies, for drug safety monitoring, and for delineating natural history. Its framework makes it improvable based on growing experience with its use and easily adaptable to other rare and complex epilepsy syndromes.

Id prodotto:

133252

Handle IRIS:

11562/1091126

ultima modifica:

28 settembre 2023

Citazione bibliografica:

Balestrini, Simona; Doccini, Viola; Giometto, Sabrina; Lucenteforte, Ersilia; De Masi, Salvatore; Giarola, Elisa; Brambilla, Isabella; Pieroni, Federica; Perulli, Marco; Battaglia, Domenica; Specchio, Nicola; Ragona, Francesca; Granata, Tiziana; Pellacani, Simona; Ferrari, Annarita; Marini, Carla; Matricardi, Sara; Cesaroni, Elisabetta; Giordano, Lucio; Accorsi, Patrizia; Sciruicchio, Vittorio; Tinuper, Paolo; Messana, Tullio; Russo, Angelo; Pruna, Dario; Nosadini, Margherita; De Giorgis, Valentina; Caputo, Davide; Pellegrin, Serena; Lo Barco, Tommaso; Darra, Francesca; Dalla Bernardina, Bernardo; Guerrini, Renzo, A registry for Dravet syndrome: The Italian experience «EPILEPSIA OPEN» , 2023 , pp. 517-534

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo