Specific therapies

Bone marrow transplant

For the most severe patients, bone marrow or umbilical cord blood transplantation may be an option^[1].Bone marrow transplantation (BMT) may improve some physical (especially facial) features and may stabilize CNS disease in some patients. With engraftment of donor marrow, the derived monocytes/macrophages enzyme activity is corrected.

However, BMT is usually reserved for the most severe MPS I patients because of the risks associated with this procedure. In general, the clinical outcome of BMT in patients with MPS I is varied and depends on the degree of clinical involvement and the age of the child at the time of transplantation. Failure to achieve stable engraftment and graft-vs.-host disease can represent significant barriers to success for many patients. For patients with MPS I, BMT carries a high risk of morbidity and mortality. Due to the risks, BMT is primarily used to treat selected severe patients with MPS I.

While BMT has modified disease progression and improved survival in some cases, it is not curative. ^[1]

Enzyme Replacement therapy

Since the basis for MPS I is the lack or shortage of well functioning α-L-iduronidase, replacement of this enzyme, is critical to successful therapy to address the underlying cause. The purpose of Aldurazyme® (laronidase) therapy in MPS I is to provide exogenous enzyme for uptake into lysosomes and facilitate the breakdown of GAG. This rationale of replacing the enzyme has proven to be true for other lysosomal storage disorders. See management of Gaucher disease and management of Fabry disease.

Please see the full prescribing information in Dutch or in French (PDF) for Aldurazyme^®.

For more information on the criteria for reimbursement of Aldurazyme^® in Belgium, see RIZIV/INAMI reimbursement criteria for Aldurazyme®

To access information about the steps required to reconstitute and administer Aldurazyme^® see Reconstitution and Administration.

References

1. Whitley CB, Belani KG, Chang PN, Summers CG, Blazar BR, Tsai MY, Latchaw RR, et al. Long-term outcome of Hurler syndrome following bone marrow transplantation. Am J Med Genet 1993;46:209.