Abstract: Provided herein are compositions and methods for the viral gene therapy (e.g., AAV-directed gene therapy) of cholesterol storage diseases or disorders, such as Niemann-Pick disease, Type C.

Abstract: The present disclosure provides adeno-associated viral vectors, recombinant adeno-associated virus (rAAV) and methods of using such vectors and viruses in gene therapy for treating methylmalonic acidemia in patients with methylmalonyl-coA mutase (MVMUT) deficiency. Also provided are pharmaceutical compositions comprising recombinant adeno-associated virus (rAAV) and a pharmaceutically acceptable carrier or excipient.

Abstract: The invention provides an adeno-associated viral (AAV) vector comprising a capsid comprising the amino acid sequence of SEQ ID NO: 4 or SEQ ID NO: 9, wherein the AAV vector further comprises a heterologous nucleic acid sequence, and wherein the heterologous nucleic acid sequence can encode the NGF-PTH fusion polypeptide or methylmalonyl CoA mutase enzyme. The invention also provides a polypeptide comprising nerve growth factor (NGF) signal peptide and parathyroid hormone (PTH), wherein the polypeptide can comprise, consist essentially of, or consist of the amino acid sequences of SEQ ID NO: 1 and SEQ ID NO: 2. The invention provides a nucleic acid encoding the polypeptide, a vector comprising the nucleic acid, and a composition comprising the polypeptide, nucleic acid, or vector, as well as treatment methods comprising the polypeptide, nucleic acid, vector, or composition.

Abstract: Provided herein are compositions and methods for the viral gene therapy (e.g.

Abstract: Provided herein are compositions and methods for the viral gene therapy (e.g., AAV-directed gene therapy) of cholesterol storage diseases or disorders, such as Niemann-Pick disease, Type C.

Abstract: The invention provides a device including a chamber wherein the chamber including a rigid enclosure; a rigid lid for the enclosure; a gasket between the lid and the enclosure to allow for an airtight seal between the enclosure and the gasket upon closure of a latch connecting the enclosure and the lid; a port for airtight attachment of a syringe, and a port for airtight insertion of a gas sensor. The device can further include a gas sensor and one or more syringes for attachment to the device by a three-way stopcocks. The device is appropriately sized for use with the subject of interest. The invention also provides methods for use of the device.

Abstract: The invention provides a device including a chamber wherein the chamber including a rigid enclosure; a rigid lid for the enclosure; a gasket between the lid and the enclosure to allow for an airtight seal between the enclosure and the gasket upon closure of a latch connecting the enclosure and the lid; a port for airtight attachment of a syringe, and a port for airtight insertion of a gas sensor. The device can further include a gas sensor and one or more syringes for attachment to the device by a three-way stopcocks. The device is appropriately sized for use with the subject of interest. The invention also provides methods for use of the device.

Abstract: The invention provides a device including a chamber wherein the chamber including a rigid enclosure; a rigid lid for the enclosure; a gasket between the lid and the enclosure to allow for an airtight seal between the enclosure and the gasket upon closure of a latch connecting the enclosure and the lid; a port for airtight attachment of a syringe, and a port for airtight insertion of a gas sensor. The device can further include a gas sensor and one or more syringes for attachment to the device by a three-way stopcocks. The device is appropriately sized for use with the subject of interest. The invention also provides methods for use of the device.