Natural History Study of Patients With Hypophosphatasia (HPP)
Recruiting
Observational Study
Hypophosphatasia
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
Ready to participate?
Review the details below, then apply to join this clinical trial.
At a Glance
Sex
Any
Study type
Observational
Participants needed
200 (estimated)
Sponsor
Duke University · Other
Who this trial is looking for
This trial is looking for people with a genetic condition called hypophosphatasia (HPP). Participants will need to provide consent and have a confirmed diagnosis of HPP.
Are You a Good Fit for This Trial?
You may be able to join if
I have a confirmed diagnosis of hypophosphatasia (HPP)
I can provide written consent or qualify for a waiver
I am currently a patient in the Duke University System
You may not be able to join if
I do not have a confirmed diagnosis of hypophosphatasia (HPP)
Summarized in plain language from this trial's official eligibility criteria.
The full criteria are further down this page — only the research team can
confirm whether you qualify.
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
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.…
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 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) …
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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