The lysosomal storage disorder (LSD) unit at the Royal Free London is designated for the treatment of all LSDs. Our focus is on the assessment and treatment of adults, however, we also have a tradition of working with paediatricians who are based in other LSD centres so that care may be provided within a family centred environment such that children can be seen alongside their parents.
We have more than 100 adults attending with Gaucher disease, nearly all of whom are receiving enzyme replacement therapy. There are over 200 individuals attending for the assessment and treatment of Fabry disease. We have one of the largest cohorts of patients with Pompe disease attending; all of our patients have juvenile or late onset forms of the condition which are milder than the infantile onset form seen in very young children. We also see patients with a range of other LSDs including mucopolysaccharidoses, Neiman Pick Disease and also some of the rarer LSDs.
Patients attend the unit for assessment and diagnosis. They are seen by one of the doctors who work alongside the nurses and a detailed clinical assessment is conducted. The patients then undergo investigations which include blood and urine tests, x-rays, scans and biopsies where appropriate. A biopsy is where a small amount of tissue is sampled usually under the cover of an anaesthetic and then examined in detail in the laboratory. Patients regularly undergo special scans of kidney function, heart function and brain function; and they also undergo detailed examination of eyes, ears and nerve function.
Many patients require a one night stop over in Hampstead and are typically accommodated in one of the local hotels. Some patients require special tests done at a nearby hospital eg. The Heart Hospital in Central London. Accommodation after arrival in Hampstead is arranged by our staff. Patients come from all over the United Kingdom including Scotland, Ireland and the Channel Islands. We try to see family members together whenever that is appropriate and children can be seen by special arrangements by one of our metabolic paediatricians in a family clinic.
Patients are regularly assessed, at least on an annual basis. Those individuals who are receiving treatment are seen every six months.
Many patients with LSDs do not require treatment. However, many of these conditions are now treatable with enzyme replacement therapy. ERT is usually given intravenously every one or two weeks and patients are treated within their own home. The enzyme is delivered in partnership with a healthcare Company and the treatments are administered in the patient’s own home by fully trained nurses.
The treatment is organised by our unit and paid for by the National Health Service. Some of these disorders can be treated with tablet therapy. These tablets (substrate reduction therapy, SRT) can be helpful in patients who have residual enzyme activity the tablet helps the patients own residual enzyme activity to degrade the accumulated storage material.