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Vitamin D Metabolism and the Williams Syndrome

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ClinicalTrials.gov Identifier: NCT00013962
Recruitment Status : Completed
First Posted : April 5, 2001
Last Update Posted : June 24, 2005
Sponsor:
Information provided by:
National Center for Research Resources (NCRR)

Study Description
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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
Williams Syndrome Drug: Vitamin D

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

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Vitamin D
Drug Information available for: Vitamin D

Groups and Cohorts
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Outcome Measures
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Eligibility Criteria
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Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years to 50 Years   (Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Criteria
Age 18 years to 50 years of age, patients and normal subjects
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00013962


Locations
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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
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ClinicalTrials.gov Identifier: NCT00013962     History of Changes
Other Study ID Numbers: NCRR-M01RR01070-0562
First Posted: April 5, 2001    Key Record Dates
Last Update Posted: June 24, 2005
Last Verified: December 2003
Additional relevant MeSH terms:
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Williams Syndrome
Syndrome
Disease
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
Ergocalciferols
Vitamins
Micronutrients
Nutrients
Growth Substances
Physiological Effects of Drugs
Bone Density Conservation Agents
Calcium-Regulating Hormones and Agents