Vitamin D Metabolism and the Williams Syndrome
June 23, 2005 updated by: National Center for Research Resources (NCRR)
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.
Study Overview
Study Type
Observational
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
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South Carolina
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Charleston, South Carolina, United States, 29425
- Medical University of South Carolina
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
18 years to 50 years (Adult)
Accepts Healthy Volunteers
No
Genders Eligible for Study
All
Description
Age 18 years to 50 years of age, patients and normal subjects
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
- Observational Models: Case-Control
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Registration Dates
First Submitted
April 3, 2001
First Submitted That Met QC Criteria
April 4, 2001
First Posted (Estimate)
April 5, 2001
Study Record Updates
Last Update Posted (Estimate)
June 24, 2005
Last Update Submitted That Met QC Criteria
June 23, 2005
Last Verified
December 1, 2003
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Pathologic Processes
- Heart Diseases
- Cardiovascular Diseases
- Nervous System Diseases
- Neurologic Manifestations
- Neurobehavioral Manifestations
- Disease
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Aortic Valve Disease
- Heart Valve Diseases
- Intellectual Disability
- Chromosome Disorders
- Aortic Valve Stenosis
- Aortic Stenosis, Supravalvular
- Syndrome
- Williams Syndrome
- Physiological Effects of Drugs
- Micronutrients
- Vitamins
- Bone Density Conservation Agents
- Vitamin D
Other Study ID Numbers
- NCRR-M01RR01070-0562
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