Improved clinical management of lysosomal disorders

Impact: Health impacts


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 date2014
Category of impactHealth impacts
Impact levelBenefit