Aav gene therapy strategies for lysosomal storage disorders with central nervous system involvement

Diane Golebiowski, Allison M. Bradbury, Churl Su Kwon, Imramsjah M.J. van der Bom, Lorelei Stoica, Aime K. Johnson, Diane U. Wilson, Heather L. Gray-Edwards, Judith A. Hudson, Jacob A. Johnson, Ashley N. Randle, Brian K. Whitlock, James L. Sartin, Anna Luisa Kühn, Matthew Gounis, Wael Asaad, Douglas R. Martin, Miguel Sena-Esteves

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


Gene therapy is one of the most promising approaches for the treatment of lysosomal storage disorders (LSDs). This is especially true for the 75% of LSDs that have central nervous system (CNS) involvement, where enzyme replacement therapy (ERT), the standard of care for LSDs, is ineffective in treating the neurological features of these diseases. Recombinant adeno-associated virus (AAV) vectors have emerged as the most effi cient and promising gene transfer vehicles for the CNS and in particular for LSDs. Direct infusion of AAV vectors into interconnected structures in the brain has achieved widespread distribution of vector and therapeutic levels of lysosomal enzymes throughout the CNS. Early stages of clinical trials are currently underway for treating neurological disorders with AAV vectors, with much anticipation for moving these treatments forward to aid patients and families affected by these terrible diseases. In this chapter, we will detail the protocols used for stereotaxic AAV infusion into the brain of mice, cats, sheep, and nonhuman primates.

Original languageEnglish
Pages (from-to)265-295
Number of pages31
StatePublished - 2015


  • Cat
  • Gene therapy
  • Lysosomal storage disorders
  • Mouse
  • Nonhuman primate
  • Sheep
  • Stereotaxic brain injections


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