Smith-Lemli-Opitz Syndrome Clinical Trial
Official title:
The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome
OBJECTIVES: I. Examine the intestinal absorption of dietary cholesterol in patients with
Smith-Lemli-Opitz syndrome.
II. Measure the effect of dietary cholesterol on plasma sterol composition. III. Quantify
basal cholesterol synthesis, turnover of cholesterol and 7-dehydrocholesterol, and the
effects of dietary cholesterol on these parameters.
IV. Identify fecal bile acid excretion quantitatively and qualitatively in these patients.
V. Compare the incorporation of deuterated water into plasma cholesterol,
7-dehydrocholesterol, and other intermediates, and assess the effect of dietary cholesterol
on this incorporation.
PROTOCOL OUTLINE:
Patients are treated with 2 dietary regimens for 1 to 3 weeks: high cholesterol and
cholesterol-free. Cholesterol is provided in the form of egg yolk. The absorption and
metabolism of cholesterol are evaluated with plasma and fecal studies. Deuterated water is
given to patients followed by analysis of deuterium in plasma cholesterol and other
intermediates, including 7-dehydrocholesterol.
;
Primary Purpose: Treatment
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