Smith-Lemli-Opitz Syndrome Clinical Trial
— STAIR-SLOSOfficial title:
Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation
NCT number | NCT01356420 |
Other study ID # | STAIR 7001 |
Secondary ID | |
Status | Terminated |
Phase | N/A |
First received | |
Last updated | |
Start date | January 2011 |
Est. completion date | December 2015 |
Verified date | May 2019 |
Source | Oregon Health and Science University |
Contact | n/a |
Is FDA regulated | No |
Health authority | |
Study type | Interventional |
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).
Status | Terminated |
Enrollment | 21 |
Est. completion date | December 2015 |
Est. primary completion date | December 2015 |
Accepts healthy volunteers | No |
Gender | All |
Age group | N/A to 85 Years |
Eligibility |
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) |
Country | Name | City | State |
---|---|---|---|
United States | Pdgen, Nichd, Nih, Dhhs | Bethesda | Maryland |
United States | Cincinnati Children'S Hospital Medical Center | Cincinnati | Ohio |
United States | University of Nebraska Medical Center | Omaha | Nebraska |
United States | Children'S Hospital of Pittsburgh of Upmc | Pittsburgh | Pennsylvania |
United States | Oregon Health and Science University | Portland | Oregon |
Lead Sponsor | Collaborator |
---|---|
Oregon Health and Science University |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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 | Correlate biochemical and clinical phenotypes | 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). | Once per year at annual study visit | |
Secondary | Identify clinical or biochemical markers for future therapeutic trials. | To identify clinical or biochemical markers that can be used as outcome measures in a future therapeutic trial. | Once per year at annual study visit | |
Secondary | Identify a biochemical marker that can be used for diagnostic testing or screening. | To identify a biochemical marker that can be used for diagnostic testing or screening | Once per year at annual study visit | |
Secondary | Develop a registry and repository of biomaterials of SLOS patients | To develop a registry of well characterized SLOS patients and to maintain a repository of biomaterials corresponding to these 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 |
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