| Contributors: |
Smeets, H.; Verbrugge, B.; Bulbena, X.; Hristova, L.; Vogt, J.; Van Beckhoven, I.; Allamand, V.; Almekinders, J.; Barquinero, J.; Berreur, S.; Bonnemann, C.; Bouman, K.; De Bruin, L.; Caron, L.; Damon, C.; Durbeej, M.; Feijen, D.; Foley, R.; Goncalves, A. R.; Camelo, C. G.; Guell, M.; Haliloglu, G.; Kemaladewi, D.; Klein, A.; Koleda, N.; Minko, O.; Munell, F.; Nebermann, T.; Pini, V.; Previtali, S.; Roos, A.; Ruegg, M.; Sarkozy, A.; Seferian, A.; Stepniewski, J.; Van Straten, E.; Van Tienen, F.; Quijano-Roy, S.; Voermans, N.; West, A.; Yurchenco, P.; Moy, J.; Almeida, C.; Becker, J.; Gill, L. |
| Description: |
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. |