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Lysosomal disorders

Thousands of children suffering from rare inherited metabolic diseases worldwide have dramatically better life expectancy and quality of life thanks to research conducted at The University of Manchester.

A team of geneticists and paediatricians, including Professor Ed Wraith and Drs Brian Bigger, Simon Jones and Robert Wynn, identified the genes associated with fatal lysosomal storage diseases (LSDs) and developed new treatments which have had international clinical impact.

The team's research from 1993 to date has led to:

  • new therapies, such as enzyme replacement, to treat a broad spectrum of LSDs. Home enzyme treatment has improved quality of life for the majority of UK LSD patients;
  • the licencing of 7 drugs worldwide for LSDs (representing 2/3 of the drugs available) after groundbreaking clinical trials. Two out of three of over 3,000 patients worldwide have benefited from drug treatment trialled in Manchester;
  • NHS clinical guidelines for improved/earlier LSD diagnosis and disease management. Children now have longer life expectancy as a result of effective treatment delivered at a much younger age than before;
  • recognition that Manchester is a worldwide centre for LSDs. Nearly 16,000 samples for diagnosis of childhood genetic metabolic diseases from over 20 countries are analysed here each year;
  • reduction in the mortality rate in Hurler disease after bone marrow transplantation from 44% in the 1990s to 4% today;
  • increased scope of bone marrow transplantation from one to two transplants per annum in the 1990s to 12 to 15 today, with several first in man transplants for metabolic diseases;
  • the development of two treatments, including a novel stem cell gene therapy approach for Sanfilippo disease, a fatal inherited condition which causes dementia in children.

Over 70 lysosomal diseases exist, usually affecting the brain, or bones and joints of children who often die at an unpredictable age, many within a few months or years of birth.

"Over 70 lysosomal diseases exist, usually affecting the brain, or bones and joints of children who often die at an unpredictable age, many within a few months or years of birth."

Dr Brian Bigger / Reader