Narrative
Researchers at the University of Manchester (UoM) characterised fatal childhood lysosomal storage diseases (LSDs) and developed new treatments. The research has led to the licensing of 6 drugs worldwide (of a total of 9 available) for LSDs including mucopolysaccharide disease I, II, IIIA, IVA, VI, Fabry, Pompe and Niemann Pick C. As a result, longevity and quality of life have improved for more than 800 LSD patients in England and more than 3000 worldwide. Home enzyme treatment has improved quality of life for the majority of LSD patients in the UK (>400). The research has broadened the scope of haematopoietic stem cell transplantation for LSDs and reduced mortality, benefiting more than 100 LSD patients worldwide.| Impact date | 2014 |
|---|---|
| Category of impact | Health impacts |
| Impact level | Benefit |
Documents & Links
Related content
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Research output
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Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease
Research output: Contribution to journal › Article › peer-review
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Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
Research output: Contribution to journal › Article › peer-review
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Recombinant human acid {alpha}-glucosidase: Major clinical benefits in infantile-onset Pompe disease.
Research output: Contribution to journal › Article › peer-review
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Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy
Research output: Contribution to journal › Article › peer-review
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Impacts
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Advancing treatments for lysosomal storage disorders
Impact: Health and wellbeing, Economic