hrp0089p1-p038 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Disease Burden and Systemic Manifestations of HPP in Children Enrolled in the Global HPP Registry

Hogler Wolfgang , Langman Craig , Gomes Da Silva Hugo , Fang Shona , Linglart Agnes , Ozono Keiichi , Petryk Anna , Rockman-Greenberg Cheryl , Seefried Lothar , Kishnani Priya

Hypophosphatasia (HPP) is a rare, inherited, systemic disease caused by mutation(s) of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP), resulting in deficient ALP activity. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset HPP. The global HPP Registry is an observational, prospective, multinational study (NCT02306720; EUPAS13514) established to collect real world clinical data from patients of a...

hrp0084p3-655 | Bone | ESPE2015

A Longitudinal, Prospective, Long-Term Registry of Patients with Hypophosphatasia

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

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

hrp0094p1-12 | Bone A | ESPE2021

Real-world clinical profiles of children with hypophosphatasia (HPP) from the Global HPP Registry

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

Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue non-specific alkaline phosphatase (TNSALP). In children, HPP has a heterogeneous clinical presentation, frequently with nonspecific musculoskeletal and systemic manifestations, often leading to misdiagnoses and substantial delays in diagnosis. Data from 323 children with confirmed HPP diagnosis (aged <18 years, ALP activity below the reference range and/or ALPL mut...