NHS 70 research discoveries: Improving quality of life for children with rare inherited metabolic diseases worldwide since the 1990s

In the seven week run-up to the 70th birthday of the NHS, we will highlight a different research discovery from Manchester University NHS Foundation Trust each week from the past 70 years. 

Week 3 – Improving quality of life for children with rare inherited metabolic diseases worldwide since the 1990s

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

A team of geneticists and paediatricians, including the late Professor Ed Wraith, Professors Brian Bigger, Robert Wynn and Dr Simon Jones developed new treatments for fatal lysosomal storage diseases (LSDs) which have had international clinical impact.

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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.