hrp0082fc2.1 | Bone & Mineral | ESPE2014

Asfotase Alfa: Sustained Improved Growth and Function with Extended Treatment in Children with Hypophosphatasia

Madson Katherine , Rockman-Greenberg Cheryl , Melian Agustin , Moseley Scott , Odrljin Tatjana , Reeves Amy , Whyte Michael

Introduction: Hypophosphatasia (HPP) is the rare, inherited, metabolic disease with broad-ranging severity caused by inactivating mutation(s) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. In the childhood form of HPP, there are mineralization defects of the bones and teeth, often with impaired physical function, muscle weakness, and decreased growth. We previously reported sustained radiographic improvement in rickets compared to historical controls in 5–1...

hrp0082fc2.2 | Bone & Mineral | ESPE2014

Hypophosphatasia: Gross Motor Function and Height Improvement in Infants and Young Children Treated with Asfotase Alfa for up to 3 Years

Bishop Nicholas , Simmons Jill , Lutz Richard , Odrljin Tatjana , Moseley Scott , Melian Agustin , Phillips Dawn , Whyte Michael

Introduction: Hypophosphatasia (HPP) is caused by inactivating mutation(s) within the gene for tissue nonspecific alkaline phosphatase (TNSALP). Patients with the perinatal and infantile forms of HPP suffer rickets, poor growth, and delayed gross motor function. In 2012, we detailed significant improvement in skeletal mineralization and respiratory function in such patients treated for 1 year with asfotase alfa, a bone-targeted recombinant human TNSALP,1 and recentl...

hrp0084fc2.4 | Bone & Mineral Metabolism | ESPE2015

Asfotase Alfa: Sustained Efficacy and Tolerability in Children with Hypophosphatasia Treated for 5 Years

Madson Katherine L , Rockman-Greenberg Cheryl , Moseley Scott , Odrljin Tatjana , Whyte Michael P

Background: Hypophosphatasia (HPP) is the rare inherited metabolic disorder resulting from loss-of-function mutation(s) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. TNSALP deficiency can cause a spectrum of complications in children including premature deciduous tooth loss, rickets, poor growth, and compromised physical function. We previously reported that children, 5–12 years old, with HPP and treated with asfotase alfa, a recombinant bone-targeted huma...