TY - JOUR
T1 - European Joint Programme on Rare Diseases workshop
T2 - LAMA2-muscular dystrophy
AU - Smeets, Hubert
AU - Verbrugge, Bram
AU - Bulbena, Xavier
AU - Hristova, Liliya
AU - Vogt, Julia
AU - van Beckhoven, Isabelle
AU - Allamand, Valérie
AU - Almekinders, Josephine
AU - Barquinero, Jordi
AU - Berreur, Séverine
AU - Bönnemann, Carsten
AU - Bouman, Karlijn
AU - de Bruin, Laura
AU - Caron, Leslie
AU - Damon, Céline
AU - Durbeej, Madeleine
AU - Feijen, Doris
AU - Foley, Reghan
AU - Goncalves, Ana Rita
AU - Camelo, Clara Gontijo
AU - Güell, Marc
AU - Haliloglu, Göknur
AU - Kemaladewi, Dwi
AU - Klein, Andrea
AU - Koleda, Nastia
AU - Minko, Olga
AU - Munell, Francina
AU - Nebermann, Tim
AU - Pini, Veronica
AU - Previtali, Stefano
AU - Roos, Andreas
AU - Rüegg, Markus
AU - Sarkozy, Anna
AU - Seferian, Andrea
AU - Stepniewski, Jacek
AU - van Straten, Emma
AU - Quijano-Roy, Susana
AU - Voermans, Nicol
AU - West, Alexia
AU - Yurchenco, Peter
AU - Moy, Justin
AU - Almeida, Cristina
AU - Becker, Johannes
AU - Gill, Louise
AU - van Tienen, Florence
AU - all participants
N1 - Funding Information:
The workshop was made possible by grants from the European Joint Programme for Rare Diseases, the foundation Voor Sara and Universiteitsfonds Limburg (SWOL).
Publisher Copyright:
© 2024
PY - 2024/3/1
Y1 - 2024/3/1
N2 - 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.
AB - 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.
U2 - 10.1016/j.nmd.2024.01.001
DO - 10.1016/j.nmd.2024.01.001
M3 - Article
SN - 0960-8966
VL - 36
SP - 16
EP - 22
JO - Neuromuscular Disorders
JF - Neuromuscular Disorders
ER -