SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation

This study is currently recruiting participants.
Verified March 2012 by Oregon Health and Science University
Sponsor:
Collaborator:
Information provided by (Responsible Party):
Robert Steiner, Oregon Health and Science University
ClinicalTrials.gov Identifier:
NCT01434745
First received: September 7, 2011
Last updated: March 21, 2012
Last verified: March 2012
  Purpose

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.


Condition Intervention
Smith-Lemli-Opitz Syndrome
Drug: Simvastatin
Dietary Supplement: Lactose

Study Type: Interventional
Study Design: Allocation: Randomized
Endpoint Classification: Safety/Efficacy Study
Intervention Model: Crossover Assignment
Masking: Single Blind (Subject)
Primary Purpose: Treatment
Official Title: Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation

Resource links provided by NLM:


Further study details as provided by Oregon Health and Science University:

Primary Outcome Measures:
  • Intellectual quotient (IQ) [ Time Frame: every 4 months - in person or over the phone assessment ] [ Designated as safety issue: Yes ]
  • Development Quotient (DQ) [ Time Frame: every 4 months - in person or over the phone assessment ] [ Designated as safety issue: Yes ]

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

Estimated Enrollment: 16
Study Start Date: September 2011
Estimated Study Completion Date: October 2014
Estimated Primary Completion Date: October 2014 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
Experimental: Simvastatin Drug: Simvastatin
Simvastatin will be administered as a powder mixed with lactose at the dose of 0.5mg/kg/day
Placebo Comparator: Placebo - Lactose Dietary Supplement: Lactose
Lactose will be administered in a capsule formula.

  Eligibility

Ages Eligible for Study:   1 Year to 89 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Criteria

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
  Contacts and Locations
Please refer to this study by its ClinicalTrials.gov identifier: NCT01434745

Contacts
Contact: SHARON BUTCHER, RN 503-494-6524 BUTCHER@OHSU.EDU

Locations
United States, Oregon
Oregon Health and Science University Recruiting
Portland, Oregon, United States, 97239
Contact: SHARON BUTCHER, RN    503-494-6524    BUTCHER@OHSU.EDU   
Principal Investigator: ROBERT STEINER, MD         
Sponsors and Collaborators
Oregon Health and Science University
Investigators
Principal Investigator: ROBERT STEINER, MD Oregon Health and Science University
  More Information

No publications provided

Responsible Party: Robert Steiner, Professor, Oregon Health and Science University
ClinicalTrials.gov Identifier: NCT01434745     History of Changes
Other Study ID Numbers: R01HL073980, R01HL073980
Study First Received: September 7, 2011
Last Updated: March 21, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by Oregon Health and Science University:
SLOS
Cholesterol Supplementation
Simvastatin

Additional relevant MeSH terms:
Smith-Lemli-Opitz Syndrome
Abnormalities, Multiple
Congenital Abnormalities
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Steroid Metabolism, Inborn Errors
Dyslipidemias
Lipid Metabolism Disorders
Metabolic Diseases
Simvastatin
Hypolipidemic Agents
Antimetabolites
Molecular Mechanisms of Pharmacological Action
Pharmacologic Actions
Lipid Regulating Agents
Therapeutic Uses
Hydroxymethylglutaryl-CoA Reductase Inhibitors
Anticholesteremic Agents
Enzyme Inhibitors

ClinicalTrials.gov processed this record on April 17, 2014