SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation

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

Clinical Trial Details — Status: Terminated

Administrative data

• NCT number: NCT01434745
• Other study ID #: R01HL073980
• Secondary ID: R01HL073980
• Status: Terminated
• Phase: N/A
• 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
• 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

Related Conditions & MeSH terms

• Smith-Lemli-Opitz Syndrome
• Syndrome

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