Abstract
Aims: Evaluation of the effects of alfa-L iduronidase in 6 Italian MPS I patients.
Patients and Methods: 6 pts (2 MPS IH/S and 4 MPS IS) mean age 24 yrs (range 11–38 yrs) received ERT 100 U/kg/week for 18.7 month mean (range 4–33 ms). We tested urinary glycosaminoglycans (GAGs), heart function, splenomegaly, joint function and quality of life (QoL).
Results: only one patient had an adverse reaction (severe urticaria) and it was necessary to reduce the dosage to 80 U/Kg/week. Results in the 3 MPS IS and 2 MPS I HS treated with a mean follow-up of 19,2 ms (range 12–30 ms) are the following: reduction in urinary GAGs excretion (-78 % mean; range -50%-91%), in bipolar diameter of the spleen (mean 1.2 cm, range 0 − 4 cm); cardiac parameters stabilised. Improvement of joint mobility with a maximum of 30 for shoulder abduction. Improvement of QoL in one MPS IS (30 ms treatment), especially in dressing herself and in the daily care; no improvement in QoL in the other two MPS IS after one year, although their joint mobility became better. Parents of the two pts affected by MPS HIS noted a stabilisation in one case and an improvement in the other in the daily care. Conclusions: ERT led, as expected, to a reduction of urinary GAGs excretion, splenomegaly, and improvement of joint mobility. The improvement of the QoL was clear in only 1/5 pts. Probably, for the less severe forms of MPS IS a longer follow up is needed to appreciate an improvement, while, on the other side in MPS I HS pts, severe disability could heavily influence the quality of life and the autonomy, hiding the benefits of an increased joint mobility.
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Fondazione Pierfranco e Luisa Mariani and MPS Italian Association.
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Sersale, G., Santus, F., Furlan, F. et al. 283 Treatment with Enzymatic Replacement Therapy (ERT) in Patients with Mucopolysaccharidosis Type I. Thirty Months Experience. Pediatr Res 58, 403 (2005). https://doi.org/10.1203/00006450-200508000-00312
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DOI: https://doi.org/10.1203/00006450-200508000-00312