MedTrace Logo

Natural History Study of Patients With Hypophosphatasia (HPP)

NCT02237625 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2026-03-05

No results posted yet for this study

Summary

Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by defective bone and teeth mineralization caused by mutations of the ALPL gene, which encodes for the tissue-nonspecific alkaline phosphatase (TNSALP) isozyme, resulting in decreased serum and bone alkaline phosphatase levels. To date, over 250 different mutations in the gene encoding TNSALP have been associated with HPP. Clinically, the loss of TNSALP function results in progressive skeletal impact as well as progressive impact on all other major organ systems. It clinically manifests as rickets in infants and children and osteomalacia at all ages. The severe form of the disease has been estimated to have a prevalence of about 1 in every 100,000 live births.

Conditions

  • Hypophosphatasia

Sponsors & Collaborators

Principal Investigators

  • Priya Kishnani, MD · Duke University

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-09-30
Primary Completion
2027-09-30
Completion
2028-09-30

Countries

  • United States

Study Locations

More Related Trials

Entities

Companies

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 NCT02237625 on ClinicalTrials.gov