RECRUITING

Natural History Study of Patients With Hypophosphatasia (HPP)

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

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.

Official Title

Natural History Study of Adult and Pediatric Patients With Hypophosphatasia

Quick Facts

Study Start:2014-09
Study Completion:2028-09
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT02237625

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Patients or their legal representative must provide written informed consent or, if applicable, qualify for waiver of consent.
  2. * Patients must have a pre-established clinical diagnosis of HPP, as indicated by one or more of the following:
  3. * Serum alkaline phosphatase (ALP) below the age-adjusted normal range
  4. * Plasma PLP at least twice the upper limit of normal (no vitamin B6 administered for at least 1 week prior to determination)
  5. * Evidence of osteopenia or osteomalacia on skeletal radiographs
  6. * Genetic analysis fof the ALPL gene
  7. * Must be current patient in the Duke University System.
  1. * Any patient without confirmation of clinical diagnosis of HPP.

Contacts and Locations

Study Contact

Janet G Blount, BA
CONTACT
919-681-7962
janet.blount@duke.edu

Principal Investigator

Priya Kishnani, MD
PRINCIPAL_INVESTIGATOR
Duke University

Study Locations (Sites)

Duke University Medical Center
Durham, North Carolina, 27710
United States

Collaborators and Investigators

Sponsor: Duke University

  • Priya Kishnani, MD, PRINCIPAL_INVESTIGATOR, Duke University

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2014-09
Study Completion Date2028-09

Study Record Updates

Study Start Date2014-09
Study Completion Date2028-09

Terms related to this study

Keywords Provided by Researchers

  • Hypophosphatasia
  • HPP

Additional Relevant MeSH Terms

  • Hypophosphatasia