Frataxin expression constructs having engineered promoters and methods of use thereof

Abstract

The disclosure relates to compositions and methods for altering, e.g., enhancing, the expression of frataxin (FXN), whether in vitro and / or in vivo including, but not limited to, the exploitation of engineered promoters. Such compositions include delivery via administration of an adeno-associated viral (AAV) particle. The compositions and methods of the present disclosure are useful in the treatment of subjects diagnosed with, or suspected of having Friedreich's ataxia or another neuromuscular or neurological condition resulting from a deficiency in the quantity and / or function of frataxin or associated with decreased expression or protein levels of frataxin.

Description

[0001] Cross References to Related Applications

[0002] This application claims U.S. Provisional Patent Application No. 62 / 738,519, filed September 28, 2018, entitled "Mataxin Compositions and Methods of Using Same," and filed September 17, 2019, and entitled "Having The benefit of U.S. Provisional Patent Application No. 62 / 901,769 of Mataxin Expression Constructs with Engineered Promoters and Methods of Using the Same, the contents of which are incorporated herein by reference in their entirety.

[0003] Reference Sequence Listing

[0004] This application is filed with a sequence listing in electronic format. The sequence listing file name is 20571019PCTSEQLST.txt, the file was created on September 27, 2019, and the size is 6,732,273 bytes. The information in electronic format of the Sequence Listing is hereby incorporated by reference in its entirety.

[0005] field of invention

[0006] The present invention relates to frataxin-based compositions and methods that involv...

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