Status:

COMPLETED

Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome

Lead Sponsor:

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Conditions:

Smith-Lemli-Opitz Syndrome

Eligibility:

All Genders

4-17 years

Phase:

PHASE2

Brief Summary

This 10-week study will evaluate and compare behavior changes in children with Smith-Lemli-Opitz syndrome (SLOS) who are taking cholesterol supplementation versus those who are not on cholesterol supp...

Detailed Description

Smith-Lemli- Opitz syndrome (SLOS) is an autosomal recessive genetic condition caused by a deficiency of the enzyme 3beta-hydroxysterol delta(7)- reductase (DHCR7). DHCR7 is the final enzyme in the st...

Eligibility Criteria

Inclusion

  • Inclusion
  • This study will include pediatric patients, ages 4-17 years old with a biochemical diagnosis of Smith-Lemli-Opitz Syndrome (SLOS).
  • Only mild and classical patients will be enrolled.
  • This study will be open to include SLOS patients regardless of whether or not they are participating in another NIH protocol.
  • Exclusion
  • Patients with a history of egg allergy or intolerance will be excluded from this study.
  • Subjects must be well enough to be in a home setting.
  • Patients participating in our simvastatin protocol (03-CH-3225) will be excluded from this study.

Exclusion

    Key Trial Info

    Start Date :

    June 1 2005

    Trial Type :

    INTERVENTIONAL

    Allocation :

    ACTUAL

    End Date :

    February 1 2009

    Estimated Enrollment :

    13 Patients enrolled

    Trial Details

    Trial ID

    NCT00114634

    Start Date

    June 1 2005

    End Date

    February 1 2009

    Last Update

    January 29 2016

    Active Locations (1)

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    Page 1 of 1 (1 locations)

    1

    National Institutes of Health Clinical Center, 9000 Rockville Pike

    Bethesda, Maryland, United States, 20892