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
Sponsor:
Collaborator:
Oregon Health and Science University
Information provided by:
National Center for Research Resources (NCRR)
ClinicalTrials.gov Identifier:
NCT00004347
First received: October 18, 1999
Last updated: June 23, 2005
Last verified: December 2003
  Purpose

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:

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.

  Eligibility

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

PROTOCOL ENTRY CRITERIA:

Smith-Lemli-Opitz syndrome

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT00004347

Locations
United States, Oregon
Oregon Health and Science University Recruiting
Portland, Oregon, United States, 97239-3098
Contact: Sonja Connor    503-494-7775    connors@ohsu.edu   
Contact: Jennifer Penfield    503-494-7944    penfield@ohsu.edu   
Sponsors and Collaborators
Oregon Health and Science University
Investigators
Study Chair: William Connor Oregon Health and Science University
  More Information

No publications provided

ClinicalTrials.gov 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:
Syndrome
Cleft Palate
Hypertelorism
Hypospadias
Genetic Diseases, X-Linked
Smith-Lemli-Opitz Syndrome
Disease
Pathologic Processes
Jaw Abnormalities
Jaw Diseases
Musculoskeletal Diseases
Maxillofacial Abnormalities
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Stomatognathic Diseases
Mouth Abnormalities
Mouth Diseases
Stomatognathic System Abnormalities
Congenital Abnormalities
Craniofacial Dysostosis
Dysostoses
Bone Diseases, Developmental
Bone Diseases
Penile Diseases
Genital Diseases, Male
Urogenital Abnormalities
Genetic Diseases, Inborn
Abnormalities, Multiple
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on September 30, 2014