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NCT00013962 Clinical Trial

Vitamin D Metabolism and the Williams Syndrome

Williams Syndrome Clinical Trial

Official title:
Vitamin D Metabolism and the Williams Syndrome

Clinical Trial Details — Status: Completed

Administrative data
NCT number NCT00013962
Other study ID # NCRR-M01RR01070-0562
Secondary ID
Status Completed
Phase N/A
First received April 3, 2001
Last updated June 23, 2005

Study information
Verified date December 2003
Source National Center for Research Resources (NCRR)
Contact n/a
Is FDA regulated No
Health authority United States: Federal Government
Study type Observational

Clinical Trial 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.

Recruitment information / eligibility
Status Completed
Enrollment 0
Est. completion date
Est. primary completion date
Accepts healthy volunteers Accepts Healthy Volunteers
Gender Both
Age group 18 Years to 50 Years
Eligibility Age 18 years to 50 years of age, patients and normal subjects

Study Design

Observational Model: Case Control

Related Conditions & MeSH terms

Intervention

Drug:
• Vitamin D

Locations
Country Name City State
United States Medical University of South Carolina Charleston South Carolina

Sponsors (1)
Lead Sponsor Collaborator
National Center for Research Resources (NCRR)

Country where clinical trial is conducted

United States, 

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