Actively Recruiting
Natural History Study of Adult and Pediatric Patients With Hypophosphatasia
Led by Duke University · Updated on 2026-03-05
200
Participants Needed
1
Research Sites
52 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Hypophosphatasia (HPP) is a rare inherited disorder affecting bone and teeth mineralization due to mutations in the ALPL gene, which lowers alkaline phosphatase levels. This condition can vary widely in severity, causing symptoms from stillbirth to early tooth loss and skeletal problems like rickets and osteomalacia. The disease shows different clinical forms depending on age at diagnosis and inheritance patterns that can be autosomal recessive or dominant. This observational study collects detailed clinical data from patients with HPP, including diagnosis, disease onset, progression, treatments, and outcomes. The study aims to build a comprehensive understanding of HPP's effects on bones, eyes, kidneys, muscles, and other systems, as well as explore complications such as cochlear implant failures and early menopause. Data will be gathered from current patients within the Duke University System. Participants will provide information about their medical history related to HPP over a long-term period of up to 100 years. Researchers will evaluate various clinical manifestations, treatment efficacy, potential long-term complications, and quality of life issues. The study involves ongoing collection and analysis of patient records and outcomes to improve knowledge and care strategies for HPP.
CONDITIONS
Brief 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 clinical diagnosis of hypophosphatasia (HPP), confirmed by one or more of the following: serum alkaline phosphatase below the age-adjusted normal range, plasma PLP at least twice the upper limit of normal without vitamin B6 for at least 1 week prior, skeletal radiographs showing osteopenia or osteomalacia, 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 hypophosphatasia (HPP).
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
Duration - Up to 100 years
Participants with hypophosphatasia are observed to collect clinical data related to diagnosis, disease progression, treatment course, and outcomes over time.
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
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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