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Vitamin D Metabolism and the Williams Syndrome

This study has been completed.
Information provided by:
National Center for Research Resources (NCRR) Identifier:
First received: April 3, 2001
Last updated: June 23, 2005
Last verified: December 2003
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 Intervention
Williams Syndrome Drug: Vitamin D

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

Resource links provided by NLM:

Further study details as provided by National Center for Research Resources (NCRR):


Ages Eligible for Study:   18 Years to 50 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Age 18 years to 50 years of age, patients and normal subjects
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Please refer to this study by its identifier: NCT00013962

United States, South Carolina
Medical University of South Carolina
Charleston, South Carolina, United States, 29425
Sponsors and Collaborators
National Center for Research Resources (NCRR)
  More Information Identifier: NCT00013962     History of Changes
Other Study ID Numbers: NCRR-M01RR01070-0562
Study First Received: April 3, 2001
Last Updated: June 23, 2005

Additional relevant MeSH terms:
Williams Syndrome
Pathologic Processes
Intellectual Disability
Neurobehavioral Manifestations
Neurologic Manifestations
Nervous System Diseases
Aortic Stenosis, Supravalvular
Aortic Valve Stenosis
Heart Valve Diseases
Heart Diseases
Cardiovascular Diseases
Chromosome Disorders
Congenital Abnormalities
Genetic Diseases, Inborn
Vitamin D
Growth Substances
Physiological Effects of Drugs
Bone Density Conservation Agents processed this record on September 21, 2017