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.