SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation

Oregon Health and Science University1 enrolled

Overview

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.

Study Type

INTERVENTIONAL

Allocation

RANDOMIZED

Purpose

TREATMENT

Masking

SINGLE

Enrollment

Conditions

Smith-Lemli-Opitz Syndrome

Interventions

SimvastatinDRUG

Simvastatin will be administered as a powder mixed with lactose at the dose of 0.5 mg/kg/day

LactoseDIETARY_SUPPLEMENT

Lactose will be administered in a capsule formula.

Eligibility

Sex: ALLMin age: 1 YearMax age: 89 Years

Medical Language ↔ Plain English

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

Locations (1)

Oregon Health and Science University

Portland, Oregon, United States

Outcomes

Primary Outcomes

Development Quotient (DQ)

neurocognitive assessment measured with Mullen Scales of Learning

Time frame: through study completion, an average of 2 per year

Secondary Outcomes

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

Time frame: end of treatment, an average of 1 per year

Plasma Marker of Sterol Metabolism

Blood cholesterol to 7-dehydrocholesterol ratio

Time frame: through study completion, an average of 2 per year

ADC

Apparent diffusion coefficient measured by brain diffusion tensor imaging (DTI)

Time frame: end of treatment, an average of 1 per year

MVA

urinary mevalonate excretion

Time frame: through study completion, an average of 2 per year

MRS Lipids

Brain magnetic resonance spectroscopy

Time frame: end of treatment, an average of 1 per year

Fractional anisotropy as measured by brain diffusion tensor imaging (DTI)

Time frame: end of treatment, an average of 1 per year

Data from ClinicalTrials.gov

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