NCT00004347

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.

Trial Health

55
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
5

participants targeted

Target at below P25 for phase_2

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

November 1, 1995

Completed
4 years until next milestone

First Submitted

Initial submission to the registry

October 18, 1999

Completed
1 day until next milestone

First Posted

Study publicly available on registry

October 19, 1999

Completed
Last Updated

June 24, 2005

Status Verified

December 1, 2003

First QC Date

October 18, 1999

Last Update Submit

June 23, 2005

Conditions

Smith-Lemli-Opitz Syndrome

Keywords

Smith-Lemli-Opitz syndromegenetic diseases and dysmorphic syndromesrare disease

Interventions

dietBEHAVIORAL

Eligibility Criteria

Age0 Years+
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
PROTOCOL ENTRY CRITERIA: Smith-Lemli-Opitz syndrome

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

Study Sites (1)

Oregon Health and Science University

Portland, Oregon, 97239-3098, United States

RECRUITING

MeSH Terms

Conditions

Smith-Lemli-Opitz SyndromeGenetic Diseases, InbornRare Diseases

Interventions

Diet

Condition Hierarchy (Ancestors)

Abnormalities, MultipleCongenital AbnormalitiesCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesLipid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsSteroid Metabolism, Inborn ErrorsDyslipidemiasLipid Metabolism DisordersMetabolic DiseasesNutritional and Metabolic DiseasesDisease AttributesPathologic ProcessesPathological Conditions, Signs and Symptoms

Intervention Hierarchy (Ancestors)

Nutritional Physiological PhenomenaDiet, Food, and NutritionPhysiological Phenomena

Study Officials

  • William Connor

    Oregon Health and Science University

    STUDY CHAIR

Study Design

Study Type
interventional
Phase
phase 2
Purpose
TREATMENT
Sponsor Type
NIH

Study Record Dates

First Submitted

October 18, 1999

First Posted

October 19, 1999

Study Start

November 1, 1995

Last Updated

June 24, 2005

Record last verified: 2003-12

Locations

US(1)