Status:
RECRUITING
Natural History Study of Patients With Hypophosphatasia (HPP)
Lead Sponsor:
Duke University
Conditions:
Hypophosphatasia
Eligibility:
All Genders
Brief 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 al...
Detailed Description
Inheritance can be autosomal recessive or dominant, and penetrance is variable resulting in a wide range of clinical expressivity, with a spectrum ranging from stillbirth without mineralized bone to e...
Eligibility Criteria
Inclusion
- 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
- Any patient without confirmation of clinical diagnosis of HPP.
Key Trial Info
Start Date :
September 1 2014
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
September 1 2028
Estimated Enrollment :
200 Patients enrolled
Trial Details
Trial ID
NCT02237625
Start Date
September 1 2014
End Date
September 1 2028
Last Update
March 14 2025
Active Locations (1)
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1
Duke University Medical Center
Durham, North Carolina, United States, 27710