Disease burden by <i>ALPL</i> variant number in patients with non-life-threatening hypophosphatasia in the Global HPP Registry.

ABSTRACT:

Background

Hypophosphatasia (HPP) is a rare metabolic disease caused by autosomal dominant or recessive inheritance of ALPL variants resulting in low alkaline phosphatase activity. The objective of this analysis was to compare HPP disease burden between patients with non-life-threatening disease in the Global HPP Registry who have one ALPL variant versus two or more ALPL variants.

Methods

Patients were included if they had one or more ALPL variants identified through genetic testing and first HPP manifestations after 6 months of age. Assessments included history of HPP manifestations, Brief Pain Inventory-Short Form (BPI-SF), Health Assessment Questionnaire-Disability Index (HAQ-DI), 6-Min Walk Test (6MWT), Paediatric Quality of Life Inventory (Pe

SUBMITTER: Kishnani PS 

PROVIDER: S-EPMC12015031 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature