- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01356420
Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome (STAIR-SLOS)
Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation
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 Overview
Status
Conditions
Intervention / Treatment
Detailed Description
Study Type
Enrollment (Actual)
Phase
- Not Applicable
Contacts and Locations
Study Locations
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Maryland
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Bethesda, Maryland, United States, 20892
- Pdgen, Nichd, Nih, Dhhs
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Nebraska
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Omaha, Nebraska, United States, 68198
- University of Nebraska Medical Center
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Ohio
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Cincinnati, Ohio, United States, 45229
- Cincinnati Children's Hospital Medical Center
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Oregon
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Portland, Oregon, United States, 97239
- Oregon Health and Science University
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Pennsylvania
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Pittsburgh, Pennsylvania, United States, 15213
- Children's Hospital of Pittsburgh of UPMC
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Participation Criteria
Eligibility Criteria
Ages Eligible for Study
Accepts Healthy Volunteers
Genders Eligible for Study
Description
Inclusion Criteria:
- 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
Exclusion Criteria:
- Subject does not have Smith-Lemli-Opitz Syndrome (SLOS)
Study Plan
How is the study designed?
Design Details
- Primary Purpose: Treatment
- Allocation: N/A
- Interventional Model: Single Group Assignment
- Masking: None (Open Label)
Arms and Interventions
Participant Group / Arm |
Intervention / Treatment |
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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.
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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.
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What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
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
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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.
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Once per year at annual study visit
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Secondary Outcome Measures
Outcome Measure |
Measure Description |
Time Frame |
---|---|---|
Correlate biochemical and clinical phenotypes
Time Frame: Once per year at annual study visit
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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).
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Once per year at annual study visit
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Identify clinical or biochemical markers for future therapeutic trials.
Time Frame: Once per year at annual study visit
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To identify clinical or biochemical markers that can be used as outcome measures in a future therapeutic trial.
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Once per year at annual study visit
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Identify a biochemical marker that can be used for diagnostic testing or screening.
Time Frame: Once per year at annual study visit
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To identify a biochemical marker that can be used for diagnostic testing or screening
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Once per year at annual study visit
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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
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To develop a registry of well characterized SLOS patients and to maintain a repository of biomaterials corresponding to these patients
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each subject will be enrolled in the registry at the baseline/initial visit, if they choose to participate in this portion of the study
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Collaborators and Investigators
Investigators
- Principal Investigator: Robert Steiner, MD, University of Wisconsin, Madison
Study record dates
Study Major Dates
Study Start
Primary Completion (Actual)
Study Completion (Actual)
Study Registration Dates
First Submitted
First Submitted That Met QC Criteria
First Posted (Estimate)
Study Record Updates
Last Update Posted (Actual)
Last Update Submitted That Met QC Criteria
Last Verified
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Pathologic Processes
- Metabolic Diseases
- Disease
- Urogenital Abnormalities
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Musculoskeletal Diseases
- Stomatognathic Diseases
- Mouth Diseases
- Bone Diseases
- Metabolism, Inborn Errors
- Lipid Metabolism Disorders
- Dyslipidemias
- Mouth Abnormalities
- Stomatognathic System Abnormalities
- Jaw Abnormalities
- Jaw Diseases
- Maxillofacial Abnormalities
- Craniofacial Abnormalities
- Musculoskeletal Abnormalities
- Abnormalities, Multiple
- Lipid Metabolism, Inborn Errors
- Bone Diseases, Developmental
- Steroid Metabolism, Inborn Errors
- Penile Diseases
- Craniofacial Dysostosis
- Dysostoses
- Syndrome
- Cleft Palate
- Hypospadias
- Genetic Diseases, X-Linked
- Smith-Lemli-Opitz Syndrome
- Hypertelorism
Other Study ID Numbers
- STAIR 7001
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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