Vitamin D Metabolism and the Williams Syndrome

Brief Title

Vitamin D Metabolism and the Williams Syndrome

Official Title

Vitamin D Metabolism and the Williams Syndrome

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.
    



Study Type

Observational




Condition

Williams Syndrome

Intervention

Vitamin D


Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Drug





Eligibility Criteria

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

Gender

All

Ages

18 Years - 50 Years

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

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Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT00013962

Organization ID

NCRR-M01RR01070-0562



Study Sponsor

National Center for Research Resources (NCRR)


Study Sponsor

, , 


Verification Date

December 2003