Clinical Trial: SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation

Study Status: Recruiting
Recruit Status: Unknown status
Study Type: Interventional

Official Title: Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation

Brief 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.

Detailed Summary:
Sponsor: Oregon Health and Science University

Current Primary Outcome:

  • Intellectual quotient (IQ) [ Time Frame: every 4 months - in person or over the phone assessment ]
  • Development Quotient (DQ) [ Time Frame: every 4 months - in person or over the phone assessment ]


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Whole body cholesterol pool size, synthesis & absorption using stable isotope testing [ Time Frame: every 4 months, after blood draws ]
  • Plasma and urine markers of sterol metabolism [ Time Frame: every 4 months, after blood & urine collection ]
  • Apparent diffusion coefficient (ADC) and fractional anisotopy FA and MRS lipids (brain MRI/MRS) [ Time Frame: once per year, after MRI ]
  • Log of response amplitude (electroretinogram) [ Time Frame: once per year, after ERG ]


Original Secondary Outcome: Same as current

Information By: Oregon Health and Science University

Dates:
Date Received: September 7, 2011
Date Started: September 2011
Date Completion: October 2014
Last Updated: March 21, 2012
Last Verified: March 2012