ISSN 1662-4009 (online)

ey0021.5-3 | Advances in Clinical Practice | ESPEYB21

5.3. The Global ALPL gene variant classification project: dedicated to deciphering variants

Farman Mariam R , Rehder Catherine , Malli Theodora , Rockman-Greenberg Cheryl , Dahir Kathryn , Angel Martos-Moreno Gabriel , Linglart Agnes , al. et

In brief: This article describes the functionalities of the Global ALPL gene variant classification project, which aims to reclassify variants of uncertain significance (VUS) in the ALPL gene and to continuously assess and update genetic, phenotypic, and functional variant information in hypophosphatasia.Commentary: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the alkaline phosphatase ( A...

ey0021.5-2 | Advances in Clinical Practice | ESPEYB21

5.2. Clinical profiles of children with hypophosphatasia prior to treatment with enzyme replacement therapy: an observational analysis from the global HPP registry

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

In brief: This observational analysis, based on data from the Global Hypophosphatasia Registry, reports the clinical profiles, prior to initiation of asfotase alfa enzyme replacement therapy, in a large cohort of children with hypophosphatasia (n=151), by age (<6 months vs 6 months to 18 years) and geographic region (USA/Canada, Europe, and Japan).Commentary: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in th...