Metabolic diseases (also known as biochemical genetics) are rare genetic conditions that affect the body chemistry. Studies at Royal Manchester Children’s Hospital (RMCH) and Saint Mary’s Hospital focus on developing new therapies for children with rare genetic diseases, for which there may be no existing treatment.
Lysosomal storage disorders (LSD), such as mucopolysaccharide (MPS) diseases (e.g. Hunter Syndrome, Sanfilippo Disease) are complex, progressive, multi-system disorders. Our lysosomal storage service manages around 300 cases at any one time and is one of only three children’s services in the UK.
Our research in this area includes novel biomarkers, diagnostic tests, end point patient care and development of new treatments for lysosomal storage disorders. We are the largest clinical unit in the UK, providing a local, regional, supra-regional and international service, plus outreach clinics in Yorkshire, Newcastle, Bristol and Belfast.
Our multi-disciplinary team has extensive experience of enzyme replacement therapy in metabolic disease patients including the Willink Unit laboratory at Saint Mary’s Hospital, which is the main diagnostic laboratory for metabolic diseases in the North of England, and the Manchester Centre for Genomic Medicine, which provides state of the art genetic and genomics testing.
The delivery of complex early stage research studies in metabolic conditions is made possible due to the NIHR / Wellcome Trust Manchester Clinical Research Facility (CRF) at RMCH. The CRF provides dedicated research space, together with the dedicated paediatric research team that works closely with clinical teams to ensure that each study is safe and effective. As the children we work with often have very rare conditions, our studies we may need to recruit participants from elsewhere in Europe for in-patient stays in RMCH and the CRF and the CRF is experienced in managing the logistics to facilitate this.
Over the past six years, Manchester has recruited five global first patients into lysosomal storage disease studies and contributed to the licensing of two new treatments. Haematopoietic stem cell transplantation is the mainstay of treatment for some lysosomal disorders, but may be applicable to others. Partnering with Prof Rob Wynn in RMCH who runs the largest bone marrow transplant unit for children with metabolic diseases in the UK, we are working towards delivering gene modified stem cell transplants for a number of new LSDs, including MPSIIIA. This area of research builds on longstanding collaboration with Dr Brian Bigger at the University of Manchester.