The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data.

ABSTRACT:

Introduction

Hypophosphatasia (HPP) is an inherited, metabolic, rare disease characterized by a high level of clinical heterogeneity. In response to this robust heterogeneity, the Global HPP Registry was formed to characterize the types of manifestations that patients may experience, as well as to compile information on genetic underpinnings of the disease, overall impact on patient quality of life, and safety and effectiveness of enzyme replacement therapy. The objective of this review was to synthesize key learnings gained from the Global HPP Registry, which is now in its tenth year of enrolling patients.

Methods

Registry data were analyzed to provide up-to-date information on age at diagnosis of HPP and alkaline phosphatase substrate testing. Published articles and abstra

SUBMITTER: Kishnani PS 

PROVIDER: S-EPMC12751868 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature