NCT02237625 Natural History Study of Patients With Hypophosphatasia (HPP)
| NCT ID | NCT02237625 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Duke University |
| Condition | Hypophosphatasia |
| Study Type | OBSERVATIONAL |
| Enrollment | 200 participants |
| Start Date | 2014-09 |
| Primary Completion | 2027-09 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 200 participants in total. It began in 2014-09 with a primary completion date of 2027-09.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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 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.
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) 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.
Contact & Investigator
Priya Kishnani, MD
PRINCIPAL INVESTIGATOR
Duke University
Frequently Asked Questions
Who can join the NCT02237625 clinical trial?
This trial is open to participants of all sexes, studying Hypophosphatasia. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT02237625 currently recruiting?
Yes, NCT02237625 is actively recruiting participants. Contact the research team at janet.blount@duke.edu for enrollment information.
Where is the NCT02237625 trial being conducted?
This trial is being conducted at Durham, United States.
Who is sponsoring the NCT02237625 clinical trial?
NCT02237625 is sponsored by Duke University. The principal investigator is Priya Kishnani, MD at Duke University. The trial plans to enroll 200 participants.