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Therapeutics & Diagnostics 22-056

Treatment of lysosomal storage diseases

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Representative image of substrate accumulation in neural cells affected by lysosomal storage disease.

Tech ID

22-056

Inventors

S. Igdoura
F. Weaver
R. Austin
C. Nurse

Patent Status

US patent filed

Stage of Research

Proof of concept and preclinical data available

Contact

Amy Hector
Business Development Manager

Abstract

Lysosomal storage diseases, such as Tay Sachs and Sandhoff disease, result from genetic mutations and can cause severe neurodegeneration in the central nervous system1. Although these diseases are rare, with a prevalence of approximately 1 in 100,0002, patients may experience severe neurological impairment and early death (infantile/juvenile forms) or delayed cognitive and speech impairments, ataxia, and lower motor neuron disease (later-onset from)1. Current treatments are substrate reduction therapy or enzyme replacement treatments3. Both treatment options have shown limited efficacy and require further research for treatment of Tay Sachs and Sandhoff disease.

Researchers at McMaster University have discovered that a repurposed FDA-approved drug is an effective treatment against Sandhoff disease in mice models. Treated mice had an increased life span and reduced muscle atrophy compared to control.

Applications

  • Treating Tay Sachs and Sandhoff disease.

Advantagess

  • Targets a unique pathway compared to other therapeutic methods.
  • Can be paired with additional substrate reduction drugs or enzyme replacement treatments

 

References
  1. Sun, A., Chang, I. J., Lam, C., & Berry, G. T. (2021). Lysosomal Storage Disorders. In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics (pp. 563-682). Academic Press.
  2. Xiao C, Tifft C, Toro C. Sandhoff Disease. 2022 Apr 14. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK579484/
  3. Solovyeva VV, Shaimardanova AA, Chulpanova DS, Kitaeva KV, Chakrabarti L and Rizvanov AA (2018) New Approaches to Tay-Sachs Disease Therapy. Front. Physiol. 9:1663. doi: 10.3389/fphys.2018.01663

Image obtained from: https://www.shutterstock.com/image-illustration/brain-neurons-lysosomal-storage-diseases-taysachs-2053861109.

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