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| ID | Type | Description | Link |
|---|---|---|---|
| R01HL073980 | U.S. NIH Grant/Contract | View source |
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poor enrollment (only one subject enrolled)
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| Name | Class |
|---|---|
| National Heart, Lung, and Blood Institute (NHLBI) | NIH |
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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.
Patients with SLOS receiving dietary cholesterol supplementation are given simvastatin, a drug that decreases the activity/expression of HMG-CoA reductase, an enzyme that controls the first step of the cholesterol synthesis pathway, reduces the accumulation of toxic 7-dehydrocholesterol (immediate metabolic precursor of cholesterol) and improve neurocognitive and behavioral outcomes.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Placebo | Placebo Comparator | placebo |
|
| Simvastatin | Experimental | 0.5 mg/kg body weight/day |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Simvastatin | Drug | Simvastatin will be administered as a powder mixed with lactose at the dose of 0.5 mg/kg/day |
|
| Measure | Description | Time Frame |
|---|---|---|
| Development Quotient (DQ) | neurocognitive assessment measured with Mullen Scales of Learning | through study completion, an average of 2 per year |
| Measure | Description | Time Frame |
|---|---|---|
| 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 |
| Plasma Marker of Sterol Metabolism |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Jean-Baptiste Roullet, PhD | Washington State University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Oregon Health and Science University | Portland | Oregon | 97239 | United States |
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Only one participant enrolled
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| ID | Title | Description |
|---|---|---|
| FG000 | Placebo - Lactose | Placebo-Lactose Lactose: Lactose will be administered in a capsule formula. |
| FG001 | Simvastatin | 0.5 mg/kg body weight/day Simvastatin: Simvastatin will be administered as a powder mixed with lactose at the dose of 0.5 mg/kg/day |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
Analyses were not completed and will never be completed due to insufficient funding
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| ID | Title | Description |
|---|---|---|
| BG000 | Placebo - Lactose | Placebo-Lactose Lactose: Lactose will be administered in a capsule formula. |
| BG001 | Simvastatin | 0.5 mg/kg body weight/day Simvastatin: Simvastatin will be administered as a powder mixed with lactose at the dose of 0.5 mg/kg/day |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Development Quotient (DQ) | neurocognitive assessment measured with Mullen Scales of Learning | No funding | Posted | through study completion, an average of 2 per year |
|
3 years
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Placebo - Lactose | Placebo-Lactose Lactose: Lactose will be administered in a capsule formula. |
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Analyses were not completed and will never be completed due to insufficient funding
| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Dr. jean-Baptiste Roullet | Washington State University | 5093587666 | j.roullet@wsu.edu |
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| ID | Term |
|---|---|
| D019082 | Smith-Lemli-Opitz Syndrome |
| ID | Term |
|---|---|
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008052 | Lipid Metabolism, Inborn Errors |
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| ID | Term |
|---|---|
| D019821 | Simvastatin |
| D007785 | Lactose |
| ID | Term |
|---|---|
| D008148 | Lovastatin |
| D009281 | Naphthalenes |
| D011084 | Polycyclic Aromatic Hydrocarbons |
| D006841 | Hydrocarbons, Aromatic |
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| Lactose | Dietary Supplement | Lactose will be administered in a capsule formula. |
|
Blood cholesterol to 7-dehydrocholesterol ratio |
| through study completion, an average of 2 per year |
| ADC | Apparent diffusion coefficient measured by brain diffusion tensor imaging (DTI) | end of treatment, an average of 1 per year |
| MVA | urinary mevalonate excretion | through study completion, an average of 2 per year |
| MRS Lipids | Brain magnetic resonance spectroscopy | end of treatment, an average of 1 per year |
| FA | Fractional anisotropy as measured by brain diffusion tensor imaging (DTI) | end of treatment, an average of 1 per year |
| BG002 | Total | Total of all reporting groups |
|
| Age, Continuous |
| Sex: Female, Male |
|
| Ethnicity (NIH/OMB) |
|
| Race (NIH/OMB) |
|
| Region of Enrollment | participants |
|
| Units |
|---|
| Counts |
|---|
| Participants |
|
| 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 | Analyses were not completed and will never be completed due to insufficient funding | Posted | end of treatment, an average of 1 per year |
|
|
| Secondary | Plasma Marker of Sterol Metabolism | Blood cholesterol to 7-dehydrocholesterol ratio | Analyses were not completed and will never be completed due to insufficient funding | Posted | through study completion, an average of 2 per year |
|
|
| Secondary | ADC | Apparent diffusion coefficient measured by brain diffusion tensor imaging (DTI) | Analyses were not completed and will never be completed due to insufficient funding | Posted | end of treatment, an average of 1 per year |
|
|
| Secondary | MVA | urinary mevalonate excretion | Analyses were not completed and will never be completed due to insufficient funding | Posted | through study completion, an average of 2 per year |
|
|
| Secondary | MRS Lipids | Brain magnetic resonance spectroscopy | Analyses were not completed and will never be completed due to insufficient funding | Posted | end of treatment, an average of 1 per year |
|
|
| Secondary | FA | Fractional anisotropy as measured by brain diffusion tensor imaging (DTI) | Analyses were not completed and will never be completed due to insufficient funding | Posted | end of treatment, an average of 1 per year |
|
|
| 0 |
| 1 |
| 0 |
| 1 |
| EG001 | Simvastatin | 0.5 mg/kg body weight/day Simvastatin: Simvastatin will be administered as a powder mixed with lactose at the dose of 0.5 mg/kg/day | 0 | 1 | 0 | 1 |
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| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D043202 | Steroid Metabolism, Inborn Errors |
| D050171 | Dyslipidemias |
| D052439 | Lipid Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D006844 |
| Hydrocarbons, Cyclic |
| D006838 | Hydrocarbons |
| D009930 | Organic Chemicals |
| D011083 | Polycyclic Compounds |
| D004187 | Disaccharides |
| D009844 | Oligosaccharides |
| D011134 | Polysaccharides |
| D002241 | Carbohydrates |
| D000073893 | Sugars |