Real-world evidence in achondroplasia: considerations for a standardized data set

Autor: Yasemin Alanay, Klaus Mohnike, Ola Nilsson, Inês Alves, Moeenaldeen AlSayed, Natasha M. Appelman-Dijkstra, Genevieve Baujat, Tawfeg Ben-Omran, Sandra Breyer, Valerie Cormier-Daire, Pernille Axél Gregersen, Encarna Guillén-Navarro, Wolfgang Högler, Mohamad Maghnie, Swati Mukherjee, Shelda Cohen, Jeanne Pimenta, Angelo Selicorni, J. Oliver Semler, Sabine Sigaudy, Dmitry Popkov, Ian Sabir, Susana Noval, Marco Sessa, Melita Irving

Publikováno v: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

Abstract Background Collection of real-world evidence (RWE) is important in achondroplasia. Development of a prospective, shared, international resource that follows the principles of findability, accessibility, interoperability, and reuse of digital

Externí odkaz: https://doaj.org/article/ce49780aedce497cb9c4ad067e8be933

P233: Health-related quality of life in achondroplasia: Findings from LISA, a multinational and observational study in Latin America

Autor: Juan Llerena, Jr, Virginia Fano, Pablo Rosselli, Mariana del Pino, Cristina Valenzuela, Janeth Méndez, Nicolette Cavalcanti, Paula Thomazinho, Amanda Aragão, José Thomaz, Tom Butt, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Renée Shediac, Tatiana Magalhães, Debora Bertola, Chong Kim

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100261- (2023)

Externí odkaz: https://doaj.org/article/b35af266ef1c40f58dfe076e08253473

P338: Objectives and design of the Acorn Study: A non-interventional study evaluating long-term safety in achondroplasia patients treated with vosoritide

Autor: Jeanne Pimenta, Shelda Cohen, Swati Mukherjee, Fiona Fettes, Kala Jayaram, Ekkehart Lausch

Publikováno v: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100366- (2023)

Externí odkaz: https://doaj.org/article/ef0d81935dbd4ae4b558b3f4e822e6b5

Lifetime impact of achondroplasia study in Europe (LIAISE):findings from a multinational observational study

Autor: Mohamad Maghnie, Oliver Semler, Encarna Guillen-Navarro, Angelo Selicorni, Karen E. Heath, Gabriele Haeusler, Lars Hagenäs, Andrea Merker, Antonio Leiva-Gea, Vanesa López González, Adalbert Raimann, Mirko Rehberg, Fernando Santos-Simarro, Diana-Alexandra Ertl, Pernille Axél Gregersen, Roberta Onesimo, Erik Landfeldt, James Jarrett, Jennifer Quinn, Richard Rowell, Jeanne Pimenta, Shelda Cohen, Thomas Butt, Renée Shediac, Swati Mukherjee, Klaus Mohnike

Publikováno v: Maghnie, M, Semler, O, Guillen-Navarro, E, Selicorni, A, Heath, K E, Haeusler, G, Hagenäs, L, Merker, A, Leiva-Gea, A, González, V L, Raimann, A, Rehberg, M, Santos-Simarro, F, Ertl, D A, Gregersen, P A, Onesimo, R, Landfeldt, E, Jarrett, J, Quinn, J, Rowell, R, Pimenta, J, Cohen, S, Butt, T, Shediac, R, Mukherjee, S & Mohnike, K 2023, ' Lifetime impact of achondroplasia study in Europe (LIAISE) : findings from a multinational observational study ', Orphanet Journal of Rare Diseases, vol. 18, no. 1, 56 . https://doi.org/10.1186/s13023-023-02652-2

Background Achondroplasia, caused by a pathogenic variant in the fibroblast growth factor receptor 3 gene, is the most common skeletal dysplasia. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) aimed to quantify the burden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11dfec7ac94b250d5e128980ec2c0d09
https://pure.au.dk/portal/da/publications/lifetime-impact-of-achondroplasia-study-in-europe-liaise(b0e9f2ff-59db-4c5c-a1e1-50064f5d0566).html