Vitamin D Metabolism and the Williams Syndrome

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Study Classification

OBSERVATIONAL

Brief Summary

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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.

Detailed Description

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Conditions

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Williams Syndrome

Study Design

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Observational Model Type

CASE_CONTROL

Interventions

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Vitamin D

Intervention Type DRUG

Eligibility Criteria

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Inclusion Criteria

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

Minimum Eligible Age

18 Years

Maximum Eligible Age

50 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Locations

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Medical University of South Carolina

Charleston, South Carolina, United States

Site Status

Countries

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United States

Other Identifiers

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NCRR-M01RR01070-0562

Identifier Type: -

Identifier Source: org_study_id