The Lysosomal storage disorder (LSD) unit at the Royal Free London owes its presence to the historical strength of the medical school in the disciplines of haematology, liver disease and neurology, due to the pioneering work of Professors Hoffbrand, Sherlock and Thomas who worked at the hospital in the 1970s, 80s and early 1990s. Diagnosis and treatment of these disorders was very perfunctory in the early stages. However important advances in treatment for Gaucher disease were made in the early 1990s and similar treatments were developed for Fabry disease in 2000 to 2002.
The Royal Free Hospital was designated a National Specialist Centre for Gaucher disease in 1997 and has subsequently been designated one of six specialist units for lysosomal storage disorders throughout the UK. The unit is funded directly from central government via the National Commissioning Group.
Research and development
Research is a major part of our work. The Royal Free Hospital is part of University College London School of Medicine and is a very important part of the UCL Partners. The unit participates in a range of clinical trials which focus on making newly devised treatments available to patients in the form of a clinical trial. Many of these are sponsored by the pharmaceutical industry and have to be conducted under rigorous conditions.
Our unit also contributes to observational studies and registries, some of which are funded by the pharmaceutical industry and others that are funded by government or research bodies. The department also undertakes a range of laboratory research studies across a range of LSDs working independently and in collaboration with other units. The co-operation, support and participation of patients in research and clinical trials is invaluable to us.
We work in partnership with research councils and the pharmaceutical industry. We have a range of important collaborations both within the medical school, with other units in the UK and internationally. We encourage visiting fellows. We participate in academic and industry sponsored symposia. We organise a yearly patient information day for LSD patients and the aim of this is to allow patients to hear about the latest developments from leaders in the field.
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