Abstract: Provided herein is a gene therapy for PKP2 (Plakophilin-2), e.g. using an adeno-associated virus (AAV) vector. The promoter of the vector may be a MHCK7 promoter or a cardiac troponin T (HTNNT2) promoter. The capsid may be an AAV9 or AAVrh74 capsid or a functional variant thereof. Other promoters or capsids may be used. Further provided are methods of treatment, such as by intravenous, intracoronary, intracarotid or intracardiac administration of the rAAV vector, and other compositions and methods.

Abstract: Provided herein is a gene therapy for PKP2 (Plakophilin-2), e.g. using an adeno-associated virus (AAV) vector. The promoter of the vector may be a MHCK7 promoter or a cardiac troponin T (HTNNT2) promoter. The capsid may be an AAV9 or AAVrh74 capsid or a functional variant thereof. Other promoters or capsids may be used. Further provided are methods of treatment, such as by intravenous, intracoronary, intracarotid or intracardiac administration of the rAAV vector, and other compositions and methods.

Abstract: Provided herein is a gene therapy for TNNC1 (Troponin C)-related cardiomyopathy, e.g. using an adeno-associated virus (AAV) vector. The promoter of the vector may be a MHCK7 promoter or a cardiac troponin T (hTNNT2) promoter. The capsid may be an AAV9 or AAVrh.74 capsid or a functional variant thereof. Other promoters or capsids may be used. Further provided are methods of treatment, such as by intravenous, intracoronary, intracarotid or intracardiac administration of the rAAV vector, and other compositions and methods.

Abstract: Provided herein is a gene therapy for JPH2 (Junctophilin-2), e.g., using an adeno-associated virus (AAV) vector. The promoter of the vector may be a MHCK7 promoter or a cardiac troponin T (HTNNT2) promoter. The capsid may be an AAV9 or AAVrh74 capsid or a functional variant thereof. Other promoters or capsids may be used. Further provided are methods of treatment, such as by intravenous, intracoronary, intracarotid or intracardiac administration of the rAAV vector, and other compositions and methods.

Abstract: Provided herein is a gene therapy for neurological disease using a recombinant adeno-associated virus (rAAV) virion as a vector to express an eEF1A2 protein or functional variant thereof. The rAAV virion may use a neuron-specific promoter, e.g., a human synapsin 1 (hSYN) promoter. The capsid may be an AAV9 capsid or functional variant thereof. Other promoters or capsids may be used. Further provided are methods of treatment, such as by intracerebrally and/or intravenously of the rAAV virion, and other compositions and methods.

Abstract: Provided herein is a gene therapy for GLUT1 Deficiency Syndrome and related disorders using a recombinant adeno-associated virus (rAAV) virion as a vector to express an GLUT1 protein or functional variant thereof. The rAAV virion may use an endothelial-specific promoter, e.g., a FLT-1 or Tie-1 promoter. The capsid may be an AAV6, AAV8, AAV9, AAVrh.74, or AAVrh.10 capsid or a functional variant thereof. Other promoters or capsids may be used. Further provided are methods of treatment, such as by intracerebrally and/or intravenously of the rAAV virion, and other compositions and methods.

Abstract: Provided herein is a gene therapy for CSRP3 (Cysteine and Glycine Rich Protein 3)-related gene deficits associated with cardiomyopathy, e.g. using an adeno-associated virus (AAV) vector. The promoter of the vector may be a MHCK7 promoter or a cardiac troponin T (HTNNT2) promoter. The capsid may be an AAV9 or AAVrh74 capsid or a functional variant thereof. Other promoters or capsids may be used. Further provided are methods of treatment, such as by intravenous, intracoronary, intracarotid or intracardiac administration of the rAAV vector, and other compositions and methods.

Abstract: The present disclosure provides improved gene therapy vectors comprising a polynucleotide sequence encoding a TCIRG1 polypeptide or functional variant thereof, methods of use thereof, pharmaceutical compositions, and more. In particular, the disclosure provides lentiviral vectors for treatment of infantile malignant osteopetrosis (IMO).

Abstract: Provided herein is a gene therapy for PKP2 (Plakophilin-2), e.g. using an adeno-associated virus (AAV) vector. The promoter of the vector may be a MHCK7 promoter or a cardiac troponin T (HTNNT2) promoter. The capsid may be an AAV9 or AAVrh74 capsid or a functional variant thereof. Other promoters or capsids may be used. Further provided are methods of treatment, such as by intravenous, intracoronary, intracarotid or intracardiac administration of the rAAV vector, and other compositions and methods.

Abstract: Provided herein is a gene therapy for PKP2 (Plakophilin-2), e.g. using an adeno-associated virus (AAV) vector. The promoter of the vector may be a MHCK7 promoter or a cardiac troponin T (HTNNT2) promoter. The capsid may be an AAV9 or AAVrh74 capsid or a functional variant thereof. Other promoters or capsids may be used. Further provided are methods of treatment, such as by intravenous, intracoronary, intracarotid or intracardiac administration of the rAAV vector, and other compositions and methods.

Abstract: The disclosure relates to optimized polynucleotide sequences for LAMP-2B, expression cassettes, vectors, and methods of use thereof in treating disease, e.g. Danon disease.

Abstract: The present disclosure provides methods for manufacturing a recombinant lentiviral vectors in an adherent bioreactor, for example, by calcium-phosphate transfection of cells grown in adherent mode on low-compaction macrocarriers in an iCELLis® bioreactor system.

Abstract: The disclosure relates to optimized polynucleotide sequences for LAMP-2B, expression cassettes, vectors, and methods of use thereof in treating disease, e.g. Danon disease.