Actively Recruiting
Natural History Study of Patients With Hypophosphatasia (HPP)
Led by Duke University · Updated on 2026-03-05
200
Participants Needed
1
Research Sites
730 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Natural History Study of Patients With Hypophosphatasia (HPP)
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients or their legal representative must provide written informed consent or qualify for waiver of consent
- Patients must have a pre-established clinical diagnosis of HPP indicated by one or more of the following: serum alkaline phosphatase below age-adjusted normal range, plasma PLP at least twice the upper limit of normal (without vitamin B6 for at least 1 week), evidence of osteopenia or osteomalacia on skeletal radiographs, or genetic analysis of the ALPL gene
- Must be a current patient in the Duke University System
You will not qualify if you...
- Any patient without confirmation of clinical diagnosis of HPP
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Duke University Medical Center
Durham, North Carolina, United States, 27710
Actively Recruiting
Research Team
J
Janet G Blount, BA
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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