United States Hypophosphatasia Molecular Research Center

Status Recruiting

Clinical Trial Summary

This study is being done to determine if cryptic alterations exist within or near to the ALPL gene in patients with a clinical diagnosis of hypophosphatasia, but without identifiable alteration on commercial testing. Additionally, the study aims to characterize functional effects of certain variants of uncertain significance in patients with clinical diagnosis of hypophosphatasia.

Clinical Trial Description

Primary Study Objectives: Determine if cryptic alterations exist within or near to the ALPL gene in patients with clinical diagnosis of hypophosphatasia, but without identifiable pathogenic or likely pathogenic variant on commercial testing. Secondary Study Objective(s): Characterize functional effects of variants of uncertain significance in patients with clinical diagnosis of hypophosphatasia Further characterize the differential diagnosis of hypophosphatasemia in patients with skeletal disease ;

Study Design

Related Conditions & MeSH terms

Hypophosphatasia

Clinical Trial Details

NCT number	NCT05062629
Study type	Observational
Source	Children's Mercy Hospital Kansas City
Contact	Eric Rush
Phone	816-302-3290
Email	hpp@cmh.edu
Status	Recruiting
Phase
Start date	August 24, 2021
Completion date	August 1, 2024

View Details

See also
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Completed	`NCT01176266` - Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP)	Phase 2/Phase 3
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