Article
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
Registro en:
HOROVITZ, Dafne D. G. et al. Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI. Mol. genet. metab., Orlando, v. 109, n. 1, p. 62-69, march. 2013.
10.1016/j.ymgme.2013.02.014
Autor
Horovitz, Dafne Dain Gandelman
Magalhães, Tatiana de Sá Carneiro Pacheco de
Acosta, Angelina Xavier
Ribeiro, Erlane M.
Giuliani, Liane R.
Palhares, Durval B.
Kim, Chong A.
Paula, Ana Carolina de
Kerstenetzy, Marcelo
Pianovski, Mara A. D.
Costa, Maria Ione F.
Santos, Francisca C.
Martins, Ana Maria
Aranda, Carolina S.
Neto, Jordão Correa
Holanda, Gervina Brady Moreira
Cardoso Junior, Laércio
Silva, Carlos A. B. da
Bonatti, Renata C. F.
Ribeiro, Bethania F. R.
Rodrigues, Maria do Carmo S.
Llerena Junior, Juan Clinton
Resumen
Background: Mucopolysaccharidosis type VI (MPS VI) is a progressive, chronic and multisystem lysosomal
storage disease with awide disease spectrum. Clinical and biochemical improvements have been reported
for MPS VI patients on enzyme replacement therapy (ERT) with rhASB (recombinant human arylsulfatase
B; galsulfase, Naglazyme®, BioMarin Pharmaceutical Inc.), making early diagnosis and intervention imperative
for optimal patient outcomes. Few studies have included children younger than five years of
age. This report describes 34 MPS VI patients that started treatment with galsulfase before five years of
age.
Methods: Data from patients who initiated treatment at b5 years of age were collected from patients'
medical records. Baseline and follow-up assessments of common symptoms that led to diagnosis and
that were used to evaluate disease progression and treatment efficacy were evaluated.
Results: A significant negative correlation was seen with treatment with ERT and urinary GAG levels. Of
those with baseline and follow-up growth data, 47% remained on their pre-treatment growth curve or
moved to a higher percentile after treatment. Of the 9 patients with baseline and follow-up sleep studies,
5 remained unaffected and 1 patient initially with mild sleep apnea showed improvement. Data regarding
cardiac, ophthalmic, central nervous system, hearing, surgical interventions and development are
also reported. No patient discontinued treatment due to an adverse event and all that were treatmentemergent
resolved.
Conclusions: The prescribed dosage of 1 mg/kg IV weekly with galsulfase ERT is shown to be safe and effective
in slowing and/or improving certain aspects of the disease, although patients should be closely monitored
for complications associated with the natural history of the disease, especially cardiac valve
involvement and spinal cord compression. A long-term follow-up investigation of this group of children will provide further information on the benefits of early treatment as well as disease progression and treatment
efficacy and safety in this young patient population.