Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome (STAIR-SLOS)
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT01356420|
Recruitment Status : Terminated (NICHD cut funding)
First Posted : May 19, 2011
Last Update Posted : May 23, 2019
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).
|Condition or disease||Intervention/treatment||Phase|
|Smith-Lemli-Opitz Syndrome||Dietary Supplement: Cholesterol supplementation||Not Applicable|
|Study Type :||Interventional (Clinical Trial)|
|Actual Enrollment :||21 participants|
|Intervention Model:||Single Group Assignment|
|Masking:||None (Open Label)|
|Official Title:||Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation|
|Study Start Date :||January 2011|
|Actual Primary Completion Date :||December 2015|
|Actual Study Completion Date :||December 2015|
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.
- 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 ]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 ]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 ]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 ]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 ]To develop a registry of well characterized SLOS patients and to maintain a repository of biomaterials corresponding to these patients
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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||University of Wisconsin, Madison|