Smith-Lemli-Opitz Syndrome Clinical Trial
Official title:
Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation
Verified date | September 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 determine if simvastatin improves development and behavior in patients with Smith Lemli-Opitz syndrome (SLOS) receiving dietary cholesterol supplementation.
Status | Terminated |
Enrollment | 1 |
Est. completion date | October 2014 |
Est. primary completion date | October 2014 |
Accepts healthy volunteers | No |
Gender | All |
Age group | 1 Year to 89 Years |
Eligibility |
Inclusion Criteria: - Male or female over 1 years old - Subject has confirmed diagnosis of Smith-Lemli-Opitz Syndrome - Subject is currently receiving cholesterol supplementation Exclusion Criteria: - Subjects too ill to travel to the study site - Subjects who are unable to safely undergo study procedures - Pregnant women |
Country | Name | City | State |
---|---|---|---|
United States | Oregon Health and Science University | Portland | Oregon |
Lead Sponsor | Collaborator |
---|---|
Oregon Health and Science University | National Heart, Lung, and Blood Institute (NHLBI) |
United States,
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | Development Quotient (DQ) | neurocognitive assessment measured with Mullen Scales of Learning | through study completion, an average of 2 per year | |
Secondary | Whole Body Cholesterol Pool Size, Synthesis & Absorption Using Stable Isotope Testing | administration of cholesterol and water labeled with stable isotope followed by measurement overtime in blood concentrations | end of treatment, an average of 1 per year | |
Secondary | Plasma Marker of Sterol Metabolism | Blood cholesterol to 7-dehydrocholesterol ratio | through study completion, an average of 2 per year | |
Secondary | ADC | Apparent diffusion coefficient measured by brain diffusion tensor imaging (DTI) | end of treatment, an average of 1 per year | |
Secondary | MVA | urinary mevalonate excretion | through study completion, an average of 2 per year | |
Secondary | MRS Lipids | Brain magnetic resonance spectroscopy | end of treatment, an average of 1 per year | |
Secondary | FA | Fractional anisotropy as measured by brain diffusion tensor imaging (DTI) | end of treatment, an average of 1 per year |
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