Searchable abstracts of presentations at key conferences on calcified tissues

ba0004p119 | (1) | ICCBH2015

Burden of disease in children with hypophosphatasia: results from patient-reported surveys

Weber Thomas , Sawyer Eileen , Moseley Scott , Odrljin Tatjana , Kishnani Priya

Objectives: Hypophosphatasia (HPP) is a rare metabolic disease caused by loss-of-function mutation(s) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Resultant low TNSALP leads to defective skeletal mineralization and diverse complications that may include poor growth, proximal muscle weakness, pain, and compromised physical function in children. Here, we describe the burden of HPP in patients <18 years old as assessed by two surveys specific to HPP symptomol...

ba0006oc25 | (1) | ICCBH2017

Biochemical and physical function outcomes after 5 years of treatment with asfotase alfa in adolescents and adults with hypophosphatasia: phase 2 study results

Kishnani Priya S. , Rockman-Greenberg Cheryl , Denker Andrew E. , Moseley Scott , Whyte Michael P.

Objective: To evaluate safety and efficacy after 5 years of treatment with asfotase alfa in adolescents and adults with hypophosphatasia (HPP) in a Phase 2, open-label, randomized, dose-ranging study (NCT01163149).Methods: Treatment with subcutaneous asfotase alfa 0.3 or 0.5 mg/kg per d was compared with no treatment (control) for 6 months in patients aged 13–66 years. After 6 months, all patients (treatment and control groups) received active treat...

ba0004p154 | (1) | ICCBH2015

A longitudinal, prospective, long-term registry of patients with hypophosphatasia

Kishnani Priya , Langman Craig , Linglart Agnes , Mornet Etienne , Ozono Keiichi , Rockman-Greenberg Cheryl , Seefried Lothar , Bedrosian Camille , Fujita Kenji , Cole Alex , Hogler Wolfgang

Objective: Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by bone mineralization defects and osteomalacia, as well as systemic manifestations, including seizures, respiratory insufficiency, muscle weakness, nephrocalcinosis, and pain. The biochemical hallmark of HPP is low serum alkaline phosphatase, resulting from loss-of-function mutations in the gene encoding tissue non-specific alkaline phosphatase. HPP presents a broad spectrum of disease seve...

ba0007oc6 | (1) | ICCBH2019

Anthropometric characteristics of pediatric patients with hypophosphatasia: data from the Global Hypophosphatasia Patient Registry

Hogler Wolfgang , Linglart Agnes , Petryk Anna , Kishnani Priya , Seefried Lothar , Fang Shona , Rockman-Greenberg Cheryl , Ozono Keiichi , Martos-Moreno Gabriel Angel

Objectives: Limited data exist on growth parameters in children with hypophosphatasia (HPP), a rare metabolic disease characterized by impaired bone mineralization. We aimed to describe growth characteristics in untreated children with HPP enrolled in the Global HPP Patient Registry.Methods: Children (<18 years old) with a diagnosis of HPP who were not receiving enzyme replacement therapy with asfotase alfa at the time of evaluation were identified f...

ba0007p76 | (1) | ICCBH2019

Safety profile of asfotase alfa treatment of patients with hypophosphatasia: a pooled analysis

Whyte Michael P , Bishop Nick , Hasan Jawad , Hofmann Christine , Hogler Wolfgang , Rockman-Greenberg Cheryl , Sena Veruska , Zhou Shanggen , Kishnani Priya S

Objectives: Asfotase alfa (AA), an enzyme replacement therapy, is the only approved treatment for pediatric-onset hypophosphatasia (HPP). We evaluated the safety profile of AA from the clinical trial program spanning pediatric and adult patients.Methods: Safety data were pooled from 4 open-label, multicenter studies in children aged ≤3 years (study 002/003 [NCT00744042/NCT01205152]; n=11) and ≤5 years (study 010-10 [NCT01176266]; <em...