Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome

The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome

Status

UNKNOWN

Phases

Phase 2

Study type

Interventional

Source

ClinicalTrials.gov

Registry ID

NCT00004347

Enrollment

Registered

1999-10-19

Start date

1995-11-30

Completion date

Unknown

Last updated

2005-06-24

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Smith-Lemli-Opitz Syndrome

Keywords

Smith-Lemli-Opitz syndrome, genetic diseases and dysmorphic syndromes, rare disease

Brief summary

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.

Detailed description

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.

Interventions

BEHAVIORALdiet

Study design

Primary purpose

TREATMENT

Eligibility

Sex/Gender

ALL

Age

0 Years to No maximum

Healthy volunteers

Inclusion criteria

PROTOCOL ENTRY CRITERIA: Smith-Lemli-Opitz syndrome

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026