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United States Hypophosphatasia Molecular Research Center

NCT05062629 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 29

Last updated 2026-05-19

No results posted yet for this study

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.

Conditions

  • Hypophosphatasia

Interventions

GENETIC

Whole Genome Sequencing

Whole Genome Sequencing

Sponsors & Collaborators

  • Children's Mercy Hospital Kansas City

    lead OTHER

Principal Investigators

  • Eric Rush · Children's Mercy Hospital Kansas City

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-08-24
Primary Completion
2026-02-25
Completion
2026-02-25

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05062629 on ClinicalTrials.gov