Journal of Molecular Medicine

, Volume 95, Issue 10, pp 1043–1052 | Cite as

Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration

  • Adeline A. LauEmail author
  • Kim M. Hemsley


The mucopolysaccharidoses (MPS) are a subgroup of lysosomal storage disorders that are caused by mutations in the genes involved in glycosaminoglycan breakdown. Multiple organs and tissues are affected, including the central nervous system. At present, hematopoietic stem cell transplantation and enzyme replacement therapies are approved for some of the (non-neurological) MPS. Treatments that effectively ameliorate the neurological aspects of the disease are being assessed in clinical trials. This review will focus on the recent outcomes and planned viral vector-mediated gene therapy clinical trials, and the pre-clinical data that supported these studies, for MPS-I (Hurler/Scheie syndrome), MPS-II (Hunter syndrome), and MPS-IIIA and -IIIB (Sanfilippo syndrome).


Gene therapy Viral vectors Lysosomal storage disease Mucopolysaccharidosis Central nervous system 



The authors have received funding for their research from the Australian National Health and Medical Research Council of Australia, the Women’s and Children’s Hospital Foundation (Australia), the Sanfilippo Children’s Research Foundation (Canada), Swiss Sanfilippo Foundation, Alliance Sanfilippo, the National MPS Society (USA), the Isaac Foundation, Lysogene, and Shire Human Genetic Therapies. The funding sources did not have any role in the writing of this review or in the decision to submit it for publication.


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© Springer-Verlag GmbH Germany 2017

Authors and Affiliations

  1. 1.Lysosomal Diseases Research Unit, Nutrition and Metabolism ThemeSouth Australian Health and Medical Research Institute (SAHMRI)AdelaideAustralia

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