Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome (STAIR-SLOS)
Recruitment status was: Recruiting
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).
|Study Design:||Endpoint Classification: Efficacy Study
Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
|Official Title:||Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation|
- To define the rate of progression of clinical and biochemical measures in patients with Smith Lemli-Opitz syndrome receiving dietary cholesterol supplementation. [ Time Frame: Once per year at annual study visit ] [ Designated as safety issue: No ]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.
- Correlate biochemical and clinical phenotypes [ Time Frame: Once per year at annual study visit ] [ Designated as safety issue: No ]To correlate biochemical and clinical phenotypes in SLOS subjects given dietary cholesterol with changes in whole body cholesterol pool size, and with its major determinants (cholesterol synthesis, absorption and intake).
- Identify clinical or biochemical markers for future therapeutic trials. [ Time Frame: Once per year at annual study visit ] [ Designated as safety issue: No ]To identify clinical or biochemical markers that can be used as outcome measures in a future therapeutic trial.
- Identify a biochemical marker that can be used for diagnostic testing or screening. [ Time Frame: Once per year at annual study visit ] [ Designated as safety issue: No ]To identify a biochemical marker that can be used for diagnostic testing or screening
- Develop a registry and repository of biomaterials of SLOS patients [ Time Frame: each subject will be enrolled in the registry at the baseline/initial visit, if they choose to participate in this portion of the study ] [ Designated as safety issue: No ]To develop a registry of well characterized SLOS patients and to maintain a repository of biomaterials corresponding to these patients
|Study Start Date:||January 2011|
|Estimated Primary Completion Date:||January 2016 (Final data collection date for primary outcome measure)|
Experimental: Cholesterol supplementation
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
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.
Please refer to this study by its ClinicalTrials.gov identifier: NCT01356420
|United States, Maryland|
|Pdgen, Nichd, Nih, Dhhs|
|Bethesda, Maryland, United States, 20892|
|United States, Nebraska|
|University of Nebraska Medical Center|
|Omaha, Nebraska, United States, 68198|
|United States, Ohio|
|Cincinnati Children'S Hospital Medical Center|
|Cincinnati, Ohio, United States, 45229|
|United States, Oregon|
|Oregon Health and Science University|
|Portland, Oregon, United States, 97239|
|United States, Pennsylvania|
|Children'S Hospital of Pittsburgh of Upmc|
|Pittsburgh, Pennsylvania, United States, 15213|
|Principal Investigator:||Robert Steiner, MD||Oregon Health and Science University|