 
 Society for Mucopolysaccharide © 2009
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  Overview of Treatment for MPS and related diseases
Treatment for MPS and related diseasesThere is no cure for any of the MPS and related diseases. In 1980 Bone Marrow Transplant (BMT) was tried experimentally on a young boy with MPS I Hurler disease. Throughout the 1980’s a small number of children diagnosed with MPS I Hurler, MPS II Hunter, MPS III Sanfilippo, MPS IVA Morquio, Fucosidosis and Mannosidosis were treated with a BMT. Over time it became clear that except in the case of MPS I Hurler, BMT does not offer any therapeutic benefit. Haemopoietic Stem Cell Transplant (HSCT) which includes BMT and Cord Blood Transplant is now the treatment of choice for children diagnosed with MPS I and having two mutations consistent with the MPS I Hurler phenotype. The outcome of HSCT is extremely variable usually only modifying the underlying disease. As a result many MPS I Hurler children who have undergone a HSCT will have a degree of learning difficulty. An HSCT in these children does not eliminate corneal clouding or modify the bone disease. As a consequence, the children will continue to have serious spinal complications that require surgical intervention, as well as other joint problems. In the 1990s several pharmaceutical companies started to develop Enzyme Replacement Therapy (ERT) as a potential therapy for the LSD’s. The first ERT was given an orphan drug licence to treat Gaucher disease in 1990. Over a decade passed before ERT became a reality, firstly for Fabry disease in 2001, followed by MPS I Hurler Scheie and Scheie disease in 2003, MPS VI Maroteaux Lamy in 2005 and MPS II in 2006. The serious limitation of all Enzyme Replacement Therapies is that it cannot cross the blood brain barrier and, therefore, in their present licensed forms are not a viable option for over half the MPS and related diseases associated with neuro-degeneration. Enzyme Replacement Therapy involves a regular infusion, either weekly or every two weeks, lasting up to five hours. Children and adults receiving ERT must be closely monitored, although many children and adults who have been on ERT without any adverse effect for several years are able to be treated at home. The dose of ERT is based on the weight of the patient making younger children cheaper to treat. It is not unusual for the cost of ERT for a 16 year old to exceed £150,000 per annum! Which are the MPS and related diseases Personal stories |
