Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.
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Project Coordinator
Partners
Julien Gondin | Aix Marseille University | Marseille, France |
Roberto Bottinelli | Fondazione Salvatore Maugeri | Pavia, Italy |
Problem to be solved: No treatment is available for nemaline myopathy (NM), a rare and fatal muscle disease.
Background: A cardinal feature of NM is muscle weakness, caused by atrophy, impaired sarcomere contractility and alterations in energy pathways. This research program builds on our recent in vitro studies, funded by E-RARE1, which suggest that muscle strength in NM might be restored by fast skeletal troponin activation. Preclinical studies with fast skeletal troponin activators in live NM mice are now warranted.
Objective: Determine the efficacy of the fast skeletal troponin activator tirasemtiv in live NM mice.
Approach: Tirasemtiv will be tested in four NM mouse models: this allows us to cover a large spectrum of the disease. We will study its effect on muscle function, energy metabolism and NM biomarkers using non-invasive magnetic resonance imaging and spectroscopy, measurements of in vivo and ex vivo muscle strength and proteomic assessments of the involved signaling pathways. This combination allows for an in-depth analysis of the efficacy of tirasemtiv in NM mice
Innovation: The availability of (1) four NM mouse models, (2) high-end infrastructure to assess muscle - and whole body performance, and (3) a novel and promising drug, positions us ideally to tackle the problem posed.
Impact: Our research program is positioned at the level of basic science and its translation towards direct clinical application; its outcome might provide an impetus to preclinical studies in other disorders with muscle weakness.
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For more information ABOUT E-Rare please contact:
E-Rare Coordinator
Daria JULKOWSKA
Tel.: +33(0) 1 78 09 80 78
+33(0) 6 20 14 13 81
daria.julkowska@agencerecherche.fr
Agence Nationale de la Recherche - ANR
Health & Biology Department
50 Avenue Daumesnil
75012 Paris, France