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Vitamin D Metabolism and the Williams Syndrome

This study has been completed.
Sponsor:
ClinicalTrials.gov Identifier:
NCT00013962
First Posted: April 5, 2001
Last Update Posted: December 9, 2005
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
Information provided by:
National Center for Research Resources (NCRR)
April 3, 2001
April 5, 2001
December 9, 2005
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No Changes Posted
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Vitamin D Metabolism and the Williams Syndrome
Vitamin D Metabolism and the Williams Syndrome
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.
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Observational
Observational Model: Case Control
Observational Model: Natural History
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Williams Syndrome
Drug: Vitamin D
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*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Completed
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Age 18 years to 50 years of age, patients and normal subjects
Sexes Eligible for Study: All
18 Years to 50 Years   (Adult)
Yes
Contact information is only displayed when the study is recruiting subjects
United States
 
 
NCT00013962
NCRR-M01RR01070-0562
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National Center for Research Resources (NCRR)
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National Center for Research Resources (NCRR)
December 2003