Systemic gene replacement therapy for treatment of X-linked myotubular myopathy (XLMTM)
AssigneesWake Forest University Health Sciences, Genethon, Children's Medical Center Corporation
InventorsMartin K. Childers, Alan H. Beggs, Ana Maria Buj Bello
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Abstract
The present invention provides compositions and methods for treating a myopathy. In certain embodiments, the invention provides compositions and methods for treating, improving muscle function, and prolonging survival in a subject with X-linked myotubular myopathy (XLMTM). The present invention provides a method comprising systemic administration of a composition that induces the increased expression of myotubularin in the muscle of a subject. The invention provides sustained regional and global increases in muscle function.
Claims56
A method of treating an X-linked myotubular myopathy (XLMTM) in a human in need thereof, the method comprising administering to the human a composition that increases expression of myotubularin in a muscle of the human, wherein the composition comprises an adeno-associated viral (AAV) vector comprising a nucleic acid sequence encoding a human Myotubularin 1 (MTM1) gene operably linked to a muscle specific promoter wherein the function of the diaphragm of the human is improved, as compared to the diaphragm of a human in the absence of administration of the composition, wherein strength is increased in the muscle.
A method of prolonging the survival of a human with an X-linked myotubular myopathy (XLMTM), the method comprising administering to the human a composition that increases the expression of myotubularin in a muscle of the human, wherein the composition comprises an adeno-associated viral (AAV) vector comprising a nucleic acid sequence encoding a human Myotubularin 1 (MTM1) gene operably linked to a muscle specific promoter.
A method of treating an X-linked myotubular myopathy (XLMTM) in a human in need thereof, the method comprising administering to the human a composition that increases the expression of myotubularin in a muscle of the human, wherein the composition comprises a viral vector comprising a nucleic acid sequence encoding a human Myotubularin 1 (MTM1) gene operably linked to a muscle specific promoter.
A method of treating an X-linked myotubular myopathy (XLMTM) in a human in need thereof, the method comprising administering to the human a composition that increases the expression of myotubularin in a muscle of the human, wherein the composition comprises a viral vector comprising a nucleic acid sequence encoding a human Myotubularin 1 (MTM1) gene operably linked to a muscle specific promoter.
A method of prolonging the survival of a human with an X-linked myotubular myopathy (XLMTM), the method comprising administering to the human a composition that increases the expression of myotubularin in a muscle of the human, wherein the composition comprises a viral vector comprising a nucleic acid sequence encoding a human Myotubularin 1 (MTM1) gene operably linked to a muscle specific promoter.
A method of restoring normal muscle function in a human with an X-linked myotubular myopathy (XLMTM), the method comprising administering to the human a composition that increases the expression of myotubularin in a muscle of the human, wherein the composition comprises a viral vector comprising a nucleic acid sequence encoding an Myotubularin 1 (MTM1) gene operably linked to a muscle specific promoter.
A pharmaceutical composition comprising a viral vector comprising a nucleic acid sequence encoding an Myotubularin 1 (MTM1) gene operably linked to a muscle specific promoter.
Dependencies are inferred from the claim text.