Compositions and methods for the treatment of disorders related to frataxin deficiency
AssigneeVoyager Therapeutics, Inc.
InventorsMathieu Emmanuel NONNENMACHER, Tyler Christopher MOYER, Jiangyu LI, Dan Richard LAKS
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Abstract
The disclosure relates to compositions and methods for, inter alia, altering, e.g., enhancing, the level of frataxin protein via delivery using an adeno-associated viral (AAV) capsid variant. The compositions and methods of the present disclosure are useful, inter alia, in the treatment of subjects who have, have been diagnosed with, or suspected of having a disorder associated with frataxin (FXN) deficiency, e.g., Friedreich's Ataxia.
Claims124
An adeno-associated virus (AAV) particle comprising:
- a) an AAV capsid variant comprising an amino acid sequence having the following formula:
- [N1]-[N2]-[N3], wherein:
- (i) optionally [N1] comprises X1, X2, and X3, wherein at least one of X1, X2, or X3 is G;
- (ii) [N2] comprises the amino acid sequence of SPH;
- and
- (iii) [N3] comprises X4, X5, and X6, wherein at least one of X4, X5, or X6 is a basic amino acid;
- and
- b) a viral genome comprising a frataxin (FXN)-encoding sequence.
An adeno-associated virus (AAV) particle comprising a viral genome comprising a frataxin (FXN)-encoding sequence and an AAV9 capsid variant comprising the amino acid sequence of SPHSKA (SEQ ID NO:
- 941).
An adeno-associated virus (AAV) particle comprising a viral genome comprising the nucleotide sequence of SEQ ID NO:
- 1797 and an AAV capsid variant comprising:
- (i) a VP1 protein comprising the amino acid sequence of SEQ ID NO:
- 4;
- (ii) a VP2 protein comprising the amino acid sequence of positions 138-742 of SEQ ID NO:
- 4;
- and/or
- (iii) a VP3 protein comprising the amino acid sequence of positions 203-742 of SEQ ID NO:
- 4.
An adeno-associated virus (AAV) particle comprising a viral genome comprising the nucleotide sequence of SEQ ID NO:
- 1797 and an AAV capsid variant comprising:
- (i) a VP1 protein comprising the amino acid sequence of SEQ ID NO:
- 36;
- (ii) a VP2 protein comprising the amino acid sequence of positions 138-742 of SEQ ID NO:
- 36;
- and/or
- (iii) a VP3 protein comprising the amino acid sequence of positions 203-742 of SEQ ID NO:
- 36.
Dependencies are inferred from the claim text.