Bone Abstracts

Objectives: Hypophosphatasia (HPP) is a rare metabolic disease caused by loss-of-function mutation(s) in the gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). HPP in infants is characterized by poor skeletal mineralization, respiratory compromise, and a high risk of mortality. We previously reported improved mineralization and respiratory function in 15 patients enrolled in this second study of asfotase alfa, a bone-targeted recombinant human TNSALP, in infants a...

Objectives: As children with confirmed type 1 Gaucher disease (inherited metabolic disorder) may have linear growth retardation, we evaluated linear growth over 2 years in children enrolled in the interventional study TKT034, in which patients receiving imiglucerase enzyme replacement therapy were switched to velaglucerase alfa.Methods: Trial TKT034 enrolled patients who were ≥2 years of age with type 1 Gaucher disease and stable clinical parameter...