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Natural History Study of Patients With Hypophosphatasia (HPP)

Recruitingn/aAges any - anyAllDuke University
NCT02237625 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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.
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What it tests

  • Not listed
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Where

1 site
Duke University Medical Center
Durham, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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