Natural History Study of Patients With Hypophosphatasia (HPP)

Launched by DUKE UNIVERSITY · Sep 10, 2014

Keywords

ClinConnect Summary

This clinical trial is studying Hypophosphatasia (HPP), a rare genetic disorder that affects how bones and teeth develop. People with HPP have a problem with a specific enzyme that leads to weak bones and can cause issues in other organs as well. The study aims to better understand the condition by gathering information from patients who have already been diagnosed with HPP.

To participate in this study, patients must have a confirmed diagnosis of HPP, which can be shown through low levels of a certain enzyme in their blood, specific signs on X-rays, or genetic testing. The trial is open to all patients currently receiving care at the Duke University System. If eligible, participants can expect to provide some medical information and possibly undergo additional tests to help the researchers learn more about HPP. This study is important as it will help improve understanding and treatment options for those with this condition.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Patients or their legal representative must provide written informed consent or, if applicable, qualify for waiver of consent.
• * Patients must have a pre-established clinical diagnosis of HPP, as indicated by one or more of the following:
• • Serum alkaline phosphatase (ALP) below the age-adjusted normal range
• • Plasma PLP at least twice the upper limit of normal (no vitamin B6 administered for at least 1 week prior to determination)
• • Evidence of osteopenia or osteomalacia on skeletal radiographs
• • Genetic analysis fof the ALPL gene
• • Must be current patient in the Duke University System.
• Exclusion Criteria:
• • Any patient without confirmation of clinical diagnosis of HPP.