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Clinical Trial Details — Status: Terminated

Administrative data

NCT number NCT01434745
Other study ID # R01HL073980
Secondary ID R01HL073980
Status Terminated
Phase N/A
First received
Last updated
Start date September 2011
Est. completion date October 2014

Study information

Verified date September 2019
Source Oregon Health and Science University
Contact n/a
Is FDA regulated No
Health authority
Study type Interventional

Clinical Trial Summary

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.


Description:

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.


Recruitment information / eligibility

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

Study Design


Related Conditions & MeSH terms


Intervention

Drug:
Simvastatin
Simvastatin will be administered as a powder mixed with lactose at the dose of 0.5 mg/kg/day
Dietary Supplement:
Lactose
Lactose will be administered in a capsule formula.

Locations

Country Name City State
United States Oregon Health and Science University Portland Oregon

Sponsors (2)

Lead Sponsor Collaborator
Oregon Health and Science University National Heart, Lung, and Blood Institute (NHLBI)

Country where clinical trial is conducted

United States, 

Outcome

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
See also
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Enrolling by invitation NCT03655223 - Early Check: Expanded Screening in Newborns
Recruiting NCT00004347 - Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Phase 2
Completed NCT03720990 - Smith-Lemli-Opitz Syndrome and Cholic Acid Phase 1/Phase 2
Completed NCT00114634 - Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Phase 2
Completed NCT00017732 - Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans N/A
Completed NCT00064792 - Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Phase 2
Recruiting NCT05642221 - Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls
Terminated NCT01356420 - Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome N/A
Completed NCT00272844 - Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Phase 1/Phase 2
Recruiting NCT01773278 - Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Phase 2
Completed NCT00070850 - Prenatal Screening For Smith-Lemli-Opitz Syndrome Phase 2