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SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified March 2012 by Robert Steiner, Oregon Health and Science University.
Recruitment status was:  Recruiting
Sponsor:
Collaborator:
National Heart, Lung, and Blood Institute (NHLBI)
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
Intervention Model: Crossover Assignment
Masking: Single Blind (Participant)
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 Robert Steiner, Oregon Health and Science University:

Primary Outcome Measures:
  • 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 ]

Secondary Outcome Measures:
  • 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 ]

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   (Child, Adult, Senior)
Sexes Eligible for Study:   All
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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

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
National Heart, Lung, and Blood Institute (NHLBI)
Investigators
Principal Investigator: ROBERT STEINER, MD Oregon Health and Science University
  More Information

Responsible Party: Robert Steiner, Professor, Oregon Health and Science University
ClinicalTrials.gov Identifier: NCT01434745     History of Changes
Other Study ID Numbers: R01HL073980 ( US NIH Grant/Contract Award Number )
Study First Received: September 7, 2011
Last Updated: March 21, 2012

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

Additional relevant MeSH terms:
Syndrome
Cleft Palate
Hypertelorism
Hypospadias
Genetic Diseases, X-Linked
Smith-Lemli-Opitz Syndrome
Disease
Pathologic Processes
Jaw Abnormalities
Jaw Diseases
Musculoskeletal Diseases
Maxillofacial Abnormalities
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Stomatognathic Diseases
Mouth Abnormalities
Mouth Diseases
Stomatognathic System Abnormalities
Congenital Abnormalities
Craniofacial Dysostosis
Dysostoses
Bone Diseases, Developmental
Bone Diseases
Penile Diseases
Genital Diseases, Male
Urogenital Abnormalities
Genetic Diseases, Inborn
Abnormalities, Multiple
Lipid Metabolism, Inborn Errors
Metabolism, Inborn Errors

ClinicalTrials.gov processed this record on May 25, 2017