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1. | All patients should be genotyped at diagnosis as this may help in (future) decision-making on therapeutic strategies. |
2. | Patients homozygous or compound heterozygous for mutations clearly associated with MPS I-H (e.g. W402X, Q70X) should be referred for HSCT. |
3. | Patients diagnosed before the age of 2.5 years based on clinical signs and symptoms compatible with MPS I-H (i.e. early kyphosis and/or characteristic facial features and/or CNS-involvement) should be referred for HSCT. |
4. | HSCT is more successful if performed early and should probably be done after the age of 3 months, as soon as a suitable donor is available. |
5. | All patients with MPS I should be tested by an experienced child (neuro-)psychologist for developmental quotient at diagnosis. Tests should be adapted for physical limitations (e.g. auditory or visual handicaps). If there is significant developmental delay (DQ < 70) before transplant, the outcome of HSCT on final IQ is likely to be limited. Not performing HSCT in these patients should be considered as an option. |
6. | There is yet no evidence that HSCT is the optimal treatment for patients with MPS I-H/S and MPS I-S (patients diagnosed on the basis of first significant clinical signs and symptoms > 2.5 years and a genotype not indicating MPS I-H). A randomized controlled trial should elucidate if HSCT is the optimal strategy for these patients. |
7. | All patients that are not transplanted may benefit significantly from ERT. |
8. | As the efficacy of ERT improves if initiated at an early age, ERT should be started at diagnosis. |
9. | There is no evidence that a dose other than the recommended dose (100 IU/kg weekly) of alpha-L-iduronidase is superior. A randomized controlled trial will be the best strategy to elucidate the optimal dose. |
10. | Patients who will be/are referred for HSCT may benefit from ERT before HSCT as this can improve the clinical condition of the patient. |
11. | There is no evidence that ERT before HSCT interferes with engraftment. |
12. | There is no evidence that ERT after a successful HSCT will improve clinical outcome. |