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Vitamin D Metabolism and the Williams Syndrome



Vitamin D Metabolism and the Williams Syndrome

For Condition: Williams Syndrome
Status: Completed
Sponsor(s): National Center for Research Resources (NCRR) ,
Synopsis: 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.
Details:
Eligibility:
Study Type:
  Observational, Natural History, Case Control
Minimum Age/Maximum Age: 18 Years/50 Years
Genders: Both
Protocol Entry Criteria: Age 18 years to 50 years of age, patients and normal subjects
Total Enrollment: 

Location and Contact Information:

Medical University of South Carolina
Charleston,  South Carolina,  29425
United States
 


Additional Information:
Study ID Numbers:
  NCRR-M01RR01070-0562; 
Study Start Date: 
Record last reviewed: December 2003
Additional information available at: clinicaltrials.gov
Clinicaltrials.gov Reference link: NCT00013962

Other Williams Syndrome Studies:
1. Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

2. Vitamin D Metabolism and the Williams Syndrome

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