Vitamin D Metabolism and the Williams Syndrome

This study has been completed.

Sponsor:

Information provided by:

National Center for Research Resources (NCRR)

ClinicalTrials.gov Identifier:

NCT00013962

First received: April 3, 2001

Last updated: June 23, 2005

Last verified: December 2003

History of Changes

Purpose

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
Official Title:	Vitamin D Metabolism and the Williams Syndrome

Resource links provided by NLM:

Genetics Home Reference related topics: CASK-related intellectual disability supravalvular aortic stenosis tetrasomy 18p Williams syndrome

MedlinePlus related topics: Vitamin D

Drug Information available for: Vitamin D

Genetic and Rare Diseases Information Center resources: Aortic Valve Stenosis Williams Syndrome

U.S. FDA Resources

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

Eligibility


Ages Eligible for Study:	18 Years to 50 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	Yes

Criteria

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

Contacts and Locations

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Please refer to this study by its ClinicalTrials.gov identifier: NCT00013962

Locations


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

No publications provided


ClinicalTrials.gov Identifier:	NCT00013962 History of Changes
Other Study ID Numbers:	NCRR-M01RR01070-0562
Study First Received:	April 3, 2001
Last Updated:	June 23, 2005
Health Authority:	United States: Federal Government

Additional relevant MeSH terms:


Williams Syndrome Aortic Stenosis, Supravalvular Aortic Valve Stenosis Cardiovascular Diseases Chromosome Disorders Congenital Abnormalities Genetic Diseases, Inborn	Heart Diseases Heart Valve Diseases Intellectual Disability Nervous System Diseases Neurobehavioral Manifestations Neurologic Manifestations

ClinicalTrials.gov processed this record on March 03, 2015

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