Clincosm LogoSign in Get a demo

Vitamin D Metabolism and the Williams Syndrome

Sponsor
National Center for Research Resources (NCRR) (NIH)
Overall Status
Completed
CT.gov ID
NCT00013962
Collaborator
(none)
1
Location

Study Details

Study Description

Brief Summary

The Williams syndrome is a disease in which supravalvular aortic stenosis, an elfin facies, mental retardation and other congenital defects are sometimes associated with abnormal vitamin D and calcium metabolism. Whereas some patients have been reported to show increased sensitivity to vitamin D or an exaggerated response of serum 25-hydroxyvitamin D {25(OH)D} to administration of vitamin D and to have hypercalcemia caused by increased circulating 1,25-dihydroxyvitamin D{1,25(OH)2D} in infancy and early childhood, most patients have normal calcium metabolism and normal values for circulating 25(OH)D and 1,25(OH)2D. We propose to carry out further studies of vitamin D metabolism to elucidate the mechanism(s) for abnormal vitamin D metabolism. We will determine the response of serum 1,25(OH)2D to administration of 1,25(OH)2D3. Measurement of the 1,25(OH)2D in the patients compared to normal subjects will be the primary outcome.

Condition or Disease Intervention/Treatment Phase
  • Drug: Vitamin D

Study Design

Study Type:
Observational
Observational Model:
Case-Control
Official Title:
Vitamin D Metabolism and the Williams Syndrome

Outcome Measures

Primary Outcome Measures

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    18 Years to 50 Years
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes

    Age 18 years to 50 years of age, patients and normal subjects

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Medical University of South Carolina Charleston South Carolina United States 29425

    Sponsors and Collaborators

    • National Center for Research Resources (NCRR)

    Investigators

    None specified.

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    , ,
    ClinicalTrials.gov Identifier:
    NCT00013962
    Other Study ID Numbers:
    • NCRR-M01RR01070-0562
    First Posted:
    Apr 5, 2001
    Last Update Posted:
    Jun 24, 2005
    Last Verified:
    Dec 1, 2003
    Additional relevant MeSH terms:
    Williams Syndrome
    Syndrome
    Vitamin D

    Study Results

    No Results Posted as of Jun 24, 2005