Fiche publication
Date publication
décembre 2016
Journal
Molecular genetics and metabolism reports
Auteurs
Membres identifiés du Cancéropôle Est :
Dr BATTAGLIA-HSU Shyue-Fang
Tous les auteurs :
Do Cao J, Wiedemann A, Quinaux T, Battaglia-Hsu SF, Mainard L, Froissart R, Bonnemains C, Ragot S, Leheup B, Journeau P, Feillet F
Lien Pubmed
Résumé
Patients under 5 years were not evaluated in the phase-3 study for enzyme replacement therapy (ERT) in MPS IV A. Here we describe the evolution of a severe Morquio A pediatric patient who was diagnosed at 19 months old and treated by ERT at 21 months old for the next 30 months. Applying the standard ERT protocol on this very young patient appeared to reduce his urinary excretion of glycosaminoglycans (GAGs); the improvements in both the 6 minute-walk test (6MWT) and the stair climb test, however, were no different than those reported in the nature history study. Additionally, this young patient experienced many ERT-associated side effects, and as a result a specific corticosteroid protocol (1 mg/kg of betamethasone the day before and 1 h before the ERT infusion) was given to avoid adverse events. Under these treatments, the height of this patient increased during the first year of the ERT although no more height gain was observed thereafter for 18 months. However, despite of ERT, his bone deformities (including severe pectus carinatum) actually worsened and his medullar cervical spine compression showed no improvement (thus needed decompression surgery).
Référence
Mol Genet Metab Rep. 2016 Dec;9:42-45
