The United States of America, As Represented by the Secretary, Department of Health and Human Services

William J Pavan

Charles P Venditti

Randy J Chandler

Danilo A Tagle

Jessie Gu

Peter G Pentchev

Melissa A Ashlock

Stacie K Loftus

Eugene D Carstea

Jill A Morris

Forbes D Porter, Iii

Denise M Larson

Jorge L Rodriguez

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.

Viral gene therapy as treatment for cholesterol storage disease or disorder

The present disclosure provides compositions for viral gene therapy, e.g. Adeno-Associated virus-directed gene therapy, and methods of using the same for the treatment and/or prevention of cholesterol storage diseases or disorders, such as Niemann-Pick disease, Type C.

Codon-optimized human NPC1 genes for the treatment of Niemann-Pick type C1 deficiency and related conditions

The present invention features diagnostic compositions and methods for predicting the age of onset of a lysosomal storage disease or a disease associated with a lysosomal defect in subject.

Compositions and methods for predicting age of onset of a lysosomal storage disease or a disease associated with a lysosomal defect

A gene for type C Niemann-Pick disease (NP-C) is disclosed, along with the amino acid sequence of the encoded peptide. Applications which are made possible by the present invention include detection of NP-C carriers and diagnosis of NP-C sufferers. The murine ortholog of the human gene is also disclosed.

Genes for Niemann-Pick type C disease

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Derwood, MD, United States of America

William J Pavan