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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Key information

Conditions

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

Age range

18 year–50 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Medical University of South Carolina

Charleston, South Carolina, 29425, United States

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Vitamin D

Drug

Sponsors and collaborators

Lead sponsor

National Center for Research Resources (NCRR)

Nih

Registry information

Important dates

First posted: Apr 5, 2001
Registry last updated: Jun 24, 2005

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed