Enzyme Replacement Therapy

A blood or marrow transplant (BMT) is the only proven therapy that can stabilize neurocognitive development and improve survival in patients with Hurler syndrome.

However, children with Hurler syndrome are at high risk for transplant-related complications, particularly pulmonary hemorrhage and upper airway obstruction often leading to requirement for mechanical ventilation.

Through a recent analysis of risk factors to determine which patients with Hurler syndrome are at higher risk with transplant, it has become apparent that children with lung-related difficulties prior to transplant may not do as well with transplant.  However, at the University of Minnesota the outcomes of young patients, without respiratory related difficulties, are very good. 

Based on determinations such as this, the need for new therapies becomes clear.  We have developed a protocol to test the use of alpha-L-iduronidase enzyme therapy in conjunction with BMT, to improve outcomes and reduce transplant related complications.  The University of Minnesota has the only approved protocol available to test enzyme therapy prior to transplantation for Hurler syndrome.  While we believe this may decrease the complications associated with transplantation, it is important to determine if any adverse effects of the use of enzyme therapy and transplant will be apparent, which can only be done by close evaluation of patients utilizing this approach.  Towards this goal we are working closely with Genezyme.

For more information about this protocol, contact Paul Orchard, M.D. at email, orcha001@umn.edu or 612.626.2961.