Author: Camelo, Clara Gontijo ; Roos, Andreas ; Goncalves, Ana Rita ; Barquinero, Jordi ; Bulbena, Xavier ; West, Alexia ; Nebermann, Tim ; Moy, Justin ; Almeida, Cristina ; Smeets, Hubert ; Durbeej, Madeleine ; Berreur, Séverine ; Sarkozy, Anna ; Previtali, Stefano ; Bönnemann, Carsten ; Seferian, Andrea ; Klein, Andrea ; Bouman, Karlijn ; Pini, Veronica ; Munell, Francina ; Voermans, Nicol ; van Tienen, Florence ; Yurchenco, Peter ; Vogt, Julia ; van Straten, Emma ; de Bruin, Laura ; Rüegg, Markus ; Stepniewski, Jacek ; Allamand, Valérie ; Gill, Louise ; Caron, Leslie ; Verbrugge, Bram ; Minko, Olga ; Haliloğlu, Göknur ; Damon, Céline ; Hristova, Liliya ; Kemaladewi, Dwi ; Almekinders, Josephine ; Koleda, Nastia ; van Beckhoven, Isabelle ; Feijen, Doris ; Becker, Johannes ; Foley, Reghan ; Quijano-Roy, Susana ; Güell, Marc
The European Joint Programme on Rare Diseases (EJPRD) funded the workshop "LAMA2-Muscular Dystrophy: Paving the road to therapy", bringing together 40 health-care professionals, researchers, patient-advocacy groups, Early-Career Scientists and other stakeholders from 14 countries. Progress in natural history, pathophysiology, trial readiness, and treatment strategies was discussed together with efforts to increase patient-awareness and strengthen collaborations. Key outcomes were (a) ongoing natural history studies in 7 countries already covered more than 350 patients. The next steps are to include additional countries, harmonise data collection and define a minimal dataset; (b) therapy development was largely complementary. Approaches included LAMA2-replacement and correction, LAMA1-reactivation, mRNA modulation, linker-protein expression, targeting downstream processes and identifying modifiers, using viral vectors, muscle stem cells, iPSC and mouse models and patient lines; (c) LAMA2-Europe will inform patients (-representatives) worldwide on standards of care and scientific progress, and enable sharing experiences. Follow-up monthly online meetings and research repositories have been established to create sustainable collaborations.