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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


NCT number NCT05062629
Study type Observational
Source Children's Mercy Hospital Kansas City
Contact Kemi Lewis
Phone 816-302-8419
Email [email protected]
Status Recruiting
Phase
Start date August 24, 2021
Completion date August 1, 2024

See also
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