Progress on HSP gene therapies

SPG4 and SPG56 research

Prof Peter Baas

Project Status SPG4, September 2022

  • A number of mice have been injected with either the SPAST vector or the control by the Baas Laboratory at Drexel University College of Medicine; preliminary data from injections is promising
  • Four additional AAV9 vectors have been generated by the Sena-Esteves Laboratory at UMass Medical School for further testing
  • Monthly breeding/injections will continue in order to obtain more robust and conclusive data.


SPG56 research in Qld


Prof Ernst Wolvetang

Hereditary spastic paraplegia 56 (SPG56) is an extremely rare autosomal recessive disorder caused by mutations in the CYP2U1 gene, involved in fatty acid metabolism. SPG56 causes progressive spasticity in upper and lower limbs, though due to the rarity of this subtype of spastic paraplegia, the molecular causes remain unclear and no treatment or cure exists.

Here we describe the generation and validation of induced pluripotent stem cell (iPSC) lines from two unrelated patients with SPG56 and two heterozygous family members. These lines can be used to investigate the mechanisms driving progressive spasticity and evaluate the potential for gene replacement therapies.

Read more on progress in the SPG56 research program. 

SOURCE:  Stem Cell Res. 2022 Oct;64:102917. doi: 10.1016/j.scr.2022.102917. Epub 2022 Sep 14. PMID: 36166872 Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.

Generation of iPSC lines from hereditary spastic paraplegia 56 (SPG56) patients and family members carrying CYP2U1 mutations

Hannah C Leeson  1 Denise Goh  2 David Coman  3 Ernst J Wolvetang  1

1. The University of Queensland, Australian Institute for Bioengineering & Nanotechnology (AIBN), St. Lucia, Brisbane, QLD 4072, Australia.

2. National University Hospital, Khoo Teck Puat – National University Children’s Medical Institute, Department of Paediatrics, 119228, Singapore; National University of Singapore, Yong Loo Lin School of Medicine, 119228, Singapore.

3. Queensland Children’s Hospital, Department of Metabolic Medicine, South Brisbane, Brisbane, QLD 4001, Australia; The University of Queensland, School of Medicine, St. Lucia, Brisbane, QLD 4072, Australia; Griffith University, School of Medicine, Gold Coast, QLD 4215, Australia.

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