European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain.
In: Neuromuscular disorders : NMD, Jg. 36 (2024-03-01), S. 16-22
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Zugriff:
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.
Competing Interests: Declaration of competing interest None
(Copyright © 2024.)
Titel: |
European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17-19, 2023, Barcelona, Spain.
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Autor/in / Beteiligte Person: | Smeets, H ; Verbrugge, B ; Bulbena, X ; Hristova, L ; Vogt, J ; van Beckhoven I |
Zeitschrift: | Neuromuscular disorders : NMD, Jg. 36 (2024-03-01), S. 16-22 |
Veröffentlichung: | Oxford ; New York : Pergamon Press, c1991-, 2024 |
Medientyp: | unknown |
ISSN: | 1873-2364 (electronic) |
DOI: | 10.1016/j.nmd.2024.01.001 |
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