Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome

NCT01356420 | Terminated DMC

• 1 other identifier: STAIR 7001
• Study Type: interventional
• Target: 21
• Locations: 1 country
• Sites: 5

Brief Summary

The purpose of this study is to learn about Smith-Lemli-Opitz Syndrome (SLOS). SLOS is an inherited condition that is caused by the body not making an enzyme as it should. The body needs the enzyme to help make cholesterol. SLOS can cause many health problems including slow growth and development, eating disorders, sleep disorders, behavior disorders, and eye diseases. Severe SLOS leads to birth defects and mental retardation and in many cases early death. The investigators plan to measure cholesterol and other sterol levels, perform clinical observations, whole body testing and imaging (brain MRIs), to learn more about the disease and its progression, differences in the clinical features among individuals with SLOS, and look at the effect of cholesterol supplementation in this condition. The study is an interventional study to characterize disease progression and correlations between clinical, biochemical and physiological features of the disease. The main hypothesis is that dietary cholesterol supplementation does not improve features of SLOS related to the brain (e.g. IQ, behavior).

Conditions

Smith-Lemli-Opitz Syndrome

Keywords

SLOS

Outcome Measures

Primary Outcomes (1)

• To define the rate of progression of clinical and biochemical measures in patients with Smith Lemli-Opitz syndrome receiving dietary cholesterol supplementation.

  This study will measure changes in whole body cholesterol pool size, 24S, cholesterol absorption and synthesis in relation with cholesterol intake and changes in clincal end-points.

  Once per year at annual study visit

Secondary Outcomes (4)

• Correlate biochemical and clinical phenotypes

  Once per year at annual study visit

• Identify clinical or biochemical markers for future therapeutic trials.

  Once per year at annual study visit

• Identify a biochemical marker that can be used for diagnostic testing or screening.

  Once per year at annual study visit

• Develop a registry and repository of biomaterials of SLOS patients

  each subject will be enrolled in the registry at the baseline/initial visit, if they choose to participate in this portion of the study

Study Arms (1)

Cholesterol supplementation

EXPERIMENTAL

All new subjects will come to their first visit with an least 3 weeks of stable cholesterol intake. Typically and preferably this will include egg yolk as cholesterol supplement, but in some instances e.g. intolerance to egg yolk it may include a new encapsulated cholesterol preparation, Sloesterol.

Dietary Supplement: Cholesterol supplementation

Interventions

Cholesterol supplementation DIETARY_SUPPLEMENT

Cholesterol supplementation may be achieved with SLOesterol instead of or in combination with egg yolk. SLOesterol is a powder formulation that contains cholesterol and natural emulsifier. It is considered a medical food developed by Solace Nutrition and available by prescription only.

Cholesterol supplementation

Eligibility Criteria

• Age: Up to 85 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Confirmed diagnosis of Smith-Lemli-Opitz Syndrome (SLOS)
• Males and females of all ages
• Willing and able to travel to OHSU or another STAIR site

You may not qualify if:

• Subject does not have Smith-Lemli-Opitz Syndrome (SLOS)

Sponsors & Collaborators

• Oregon Health and Science University: lead

Study Sites (5)

Pdgen, Nichd, Nih, Dhhs

Bethesda, Maryland, 20892, United States

Location

University of Nebraska Medical Center

Omaha, Nebraska, 68198, United States

Location

Cincinnati Children'S Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

Oregon Health and Science University

Portland, Oregon, 97239, United States

Location

Children'S Hospital of Pittsburgh of Upmc

Pittsburgh, Pennsylvania, 15213, United States

Location

MeSH Terms

Conditions

Smith-Lemli-Opitz Syndrome

Condition Hierarchy (Ancestors)

Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Steroid Metabolism, Inborn Errors; Dyslipidemias; Lipid Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Robert Steiner, MD

  University of Wisconsin, Madison

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: TREATMENT
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Clinical Professor

Study Record Dates

• First Submitted: May 11, 2011
• First Posted: May 19, 2011
• Study Start: January 1, 2011
• Primary Completion: December 1, 2015
• Study Completion: December 1, 2015
• Last Updated: May 23, 2019

Record last verified: 2019-05

Locations

US (5)