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

The recruitment status of this study is unknown because the information has not been verified recently.
Verified December 2003 by National Center for Research Resources (NCRR).
Recruitment status was  Recruiting
Oregon Health and Science University
Information provided by:
National Center for Research Resources (NCRR) Identifier:
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: December 2003

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.

Condition Intervention Phase
Smith-Lemli-Opitz Syndrome
Behavioral: diet
Phase 2

Study Type: Interventional
Study Design: Primary Purpose: Treatment
Official Title: The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome

Resource links provided by NLM:

Further study details as provided by National Center for Research Resources (NCRR):

Estimated Enrollment: 5
Study Start Date: November 1995
Detailed Description:


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.


Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No


Smith-Lemli-Opitz syndrome

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Please refer to this study by its identifier: NCT00004347

United States, Oregon
Oregon Health and Science University Recruiting
Portland, Oregon, United States, 97239-3098
Contact: Sonja Connor    503-494-7775   
Contact: Jennifer Penfield    503-494-7944   
Sponsors and Collaborators
National Center for Research Resources (NCRR)
Oregon Health and Science University
Study Chair: William Connor Oregon Health and Science University
  More Information Identifier: NCT00004347     History of Changes
Other Study ID Numbers: NCRR-M01RR00334-0068  OHSU-4019 
Study First Received: October 18, 1999
Last Updated: June 23, 2005
Health Authority: United States: Federal Government

Keywords provided by National Center for Research Resources (NCRR):
Smith-Lemli-Opitz syndrome
genetic diseases and dysmorphic syndromes
rare disease

Additional relevant MeSH terms:
Cleft Palate
Genetic Diseases, X-Linked
Smith-Lemli-Opitz Syndrome
Abnormalities, Multiple
Bone Diseases
Bone Diseases, Developmental
Congenital Abnormalities
Craniofacial Abnormalities
Craniofacial Dysostosis
Genetic Diseases, Inborn
Genital Diseases, Male
Jaw Abnormalities
Jaw Diseases
Lipid Metabolism Disorders
Lipid Metabolism, Inborn Errors
Maxillofacial Abnormalities
Metabolic Diseases
Metabolism, Inborn Errors
Mouth Abnormalities
Mouth Diseases
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Pathologic Processes
Penile Diseases processed this record on May 26, 2016