The lab of James M. Wilson, MD, PhD, professor of Pathology and Laboratory Medicine and director of the Penn Gene Therapy Program, has published a proof-of-principle animal study that reduces harmful accumulation of proteins in a rare lysosomal storage disease through direct gene therapy. The study "Intrathecal Gene Therapy Corrects CNS Pathology in a Feline Model of Mucopolysaccharidosis I" was published in the journal Molecular Therapy.

Treating the rare disease Mucopolysaccharidosis (MPS) is a challenge. MPS I, caused by the deficiency of a key enzyme called IDUA, eventually leads to the abnormal accumulation of certain molecules and cell death. The two main treatments for MPS I are bone marrow transplantation and intravenous enzyme replacement therapy, but these are only marginally effective or clinically impractical, especially when the disease strikes the central nervous system (CNS). The Wilson lab has now proven the efficacy of a more elegant way to restore IDUA levels in the body through direct gene transfer, demonstrating a proof-of-principle for the efficacy and practicality of intrathecal delivery of gene therapy for MPS patients. 
Read the Department of Communications news release.