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...

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...