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.
Claims15
A method of treating a an X-linked myotubular myopathy (XLMTM) in a mammal in need thereof, the method comprising systemically administering to the mammal a composition that increases expression of myotubularin in a muscle of mammal, wherein the composition comprises an adeno-associated viral (AAV) vector comprising a nucleic acid sequence encoding the myotubularin gene (MTM 1) operably linked to a muscle specific promoter, further wherein the function of the diaphragm of the mammal is improved, as compared to the diaphragm of the mammal in the absence of administration of the composition, wherein strength is increased in the muscle.
A method of prolonging the survival of a mammal with a an X-linked myotubular myopathy (XLMTM), the method comprising systemically administering to the mammal a composition that increases expression of myotubularin in a muscle of the mammal, wherein the composition comprises an adeno-associated viral (AAV) vector comprising a nucleic acid sequence encoding the myotubularin gene (MTM 1) operably linked to a muscle specific promoter, further wherein the function of the diaphragm of the mammal is improved, as compared to the diaphragm of the mammal in the absence of administration of the composition, wherein strength is increased in the muscle, and wherein survival of the mammal is prolonged.
A composition comprising an adeno-associated viral (AAV) vector comprising a nucleic acid sequence encoding the myotubularin gene (MTM1) operably linked to a desmin promoter.
Dependencies are inferred from the claim text.