Abstract: The present invention relates to an expression system for systemic administration comprising a sequence encoding a protein, said expression system allowing: the expression at a therapeutically acceptable level of the protein in the target tissues including skeletal muscles; and the expression at toxically acceptable level of the protein in tissues other than the target tissues, especially in the heart.

Abstract: The present invention relates to the combination of a proteasome inhibitor and a histone deacetylase (HDAC) inhibitor and its use for the treatment of a genetic disease linked to a conformational disorder of at least one protein, said disorder causing the proteasome degradation of the protein.

Abstract: The present invention concerns synthetic polynucleotides encoding a human fukutin-related protein (FKRP) wherein the synthetic polynucleotides contain at least a mutation avoiding supplementary transcript(s) generated from frameshift start codon(s). The synthetic polynucleotides are useful, especially for treating a pathology linked to a FKRP deficiency or induced by a defect in ?-dystroglycan (?-DG) glycosylation, such as LGMD2I.

Abstract: The invention relates to the treatment of dilated cardiomyopathies, in particular genetic dilated cardiomyopathies, using non-expressible inhibitors of the WNT pathway or TGF-? pathway, alone or in combination.

Abstract: The present invention concerns a novel short promoter characterized by a high activity in the skeletal muscles and a low activity in the heart. It then constitutes a valuable candidate especially for driving the expression of transgenes encoding proteins useful for the treatment of muscular dystrophies.

Abstract: The present invention concerns an expression system for systemic administration comprising a sequence encoding a FKRP protein, and: a promoter sequence allowing the expression at a therapeutically acceptable level of FKRP in the skeletal muscles and a target sequence of an miRNA expressed in the heart; or a promoter sequence allowing the expression at a therapeutically acceptable level of FKRP in the skeletal muscles and presenting a promoter activity at a toxically acceptable level in the heart; and its use for the treatment of various diseases linked to FKRP deficiencies.

Abstract: The invention relates to the treatment of genetic dilated cardiomyopathies using expressible modulators of the Wnt pathway or TGF-? pathway, preferably using gene transfer.

Abstract: The present invention concerns an expression system for systemic administration comprising a sequence encoding gamma-sarcoglycan (SGCG) placed under the control of a promoter allowing an adequate expression of SGCG in the skeletal muscles and in the heart, and its use for the treatment of Limb-Girdle Muscular Dystrophy type C.

Abstract: The present invention relates to the treatment of dilated cardiomyopathies, in particular to the use of an activator of NRF2.

Abstract: The present disclosure relates to the treatment of dilated cardiomyopathies, in particular to 5 the use of an inhibitor of CILP-1.

Abstract: The present invention concerns synthetic polynucleotides encoding a human fukutin-related protein (FKRP) wherein the synthetic polynucleotides contain at least a mutation avoiding supplementary transcript(s) generated from frameshift start codon(s). The synthetic polynucleotides are useful, especially for treating a pathology linked to a FKRP deficiency or induced by a defect in ?-dystroglycan (?-DG) glycosylation, such as LGMD2I.

Abstract: The present invention concerns an expression system for systemic administration comprising a sequence encoding a FKRP protein, and: —a promoter sequence allowing the expression at a therapeutically acceptable level of FKRP in the skeletal muscles and a target sequence of an miRNA expressed in the heart; or—a promoter sequence allowing the expression at a therapeutically acceptable level of FKRP in the skeletal muscles and presenting a promoter activity at a toxically acceptable level in the heart; and its use for the treatment of various diseases linked to FKRP deficiencies.

Abstract: The present invention concerns a quasidystrophin (QD) having the structure CH1CH2H1R1R2R3H2R8R9 in its N-terminal part and advantageously further comprising the R16 and R17 rod domains, as well as the dual AAV vector system which allows producing it.

Abstract: Sarcoglycanopathies are autosomal recessive diseases caused by mutations in the one of the genes coding for any sarcoglycans (SG). The inventors previously showed that the application of small molecules developed to rescue ?F508-CFTR trafficking, and known as CFTR correctors, improved the maturation of several ?-sarcoglycan mutants that were consequently rescued at the plasma membrane (WO 014086687). Now, the inventors show that some specific CFTR correctors provide additive and even synergic effect when administered in combination.

Abstract: The present invention concerns synthetic polynucleotides encoding a human fukutin-related protein (FKRP) wherein said polynucleotides contain at least a mutation avoiding supplementary transcript(s) generated from frameshift start codon(s). Said polynucleotides are useful, especially for treating a pathology linked to a FKRP deficiency or induced by a defect in ?-dystroglycan (?-DG) glycosylation, such as LGMD2I.

Abstract: The invention relates to a method for prognosing, diagnosing, determining the risk, and monitoring the evolution of a muscular dystrophy. It also relates to a method for evaluating the efficacy of a treatment of a muscular dystrophy in a subject in need thereof.

Abstract: The invention relates to a recombinant adeno-associated virus (AAV) capsid protein, which is a hybrid between AAV serotype 9 (AAV9) and AAV serotype 74 (AAVrh74) capsid proteins, wherein said recombinant hybrid AAV capsid protein has a reduced liver tropism compared to the parent AAV9 and AAVrh74 capsid proteins. The invention relates also to the derived hybrid AAV serotype vector particles packaging a gene of interest and their use in gene therapy, in particular for treating neuromuscular genetic diseases.

Abstract: Sarcoglycanopathies are autosomal recessive diseases caused by mutations in the one of the genes coding for any sarcoglycans (SG). The inventors previously showed that the application of small molecules developed to rescue ?F508-CFTR trafficking, and known as CFTR correctors, improved the maturation of several ?-sarcoglycan mutants that were consequently rescued at the plasma membrane (WO 014086687). Now, the inventors show that some specific CFTR correctors provide additive and even synergic effect when administered in combination.

Abstract: The present invention relates to an expression system for systemic administration comprising a sequence encoding a protein, said expression system allowing: the expression at a therapeutically acceptable level of the protein in the target tissues including skeletal muscles; and the expression at toxically acceptable level of the protein in tissues other than the target tissues, especially in the heart.

Abstract: The present invention relates to an expression system for systemic administration comprising a sequence encoding a protein, said expression system allowing: the expression at a therapeutically acceptable level of the protein in the target tissues including skeletal muscles and/or the peripheral nervous tissue; and the expression at toxically acceptable level of the protein in tissues other than the target tissues, especially in the heart.