RECRUITING

Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

Description

Patients with biochemically confirmed SLOS are being treated with cholesterol supplementation and antioxidant medication. They are carefully monitored with visits to clinic, laboratory testing including cholesterol and 7-dehydrocholesterol levels, vitamin levels, blood counts and liver and kidney function. On a serial basis, no more often than once a year, the patients undergo a series of tests under anesthesia, including electroretinogram (ERG), brainstem audiometry (ABR), and ophthalmologic exam under anesthesia to follow pigmentary retinopathy.

Official Title

Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)

Quick Facts

Study Start:2008-12
Study Completion:2025-12
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT01773278

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Ages Eligible for Study:Not specified to 65 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:No
Standard Ages:CHILD, ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Clinical diagnosis of Smith-Lemli-Opitz Syndrome
  2. * Elevated levels of 7-dehydrocholesterol and 8-dehydrocholesterol
  3. * Must be able to travel to Children's Hospital Colorado annually
  4. * Must have insurance coverage for ERG/ABR studies
  1. * absence of detectable 7-dehydrocholesterol/8-dehydrocholesterol
  2. * allergy to Antioxidant medication

Contacts and Locations

Study Contact

Ellen R Elias, MD
CONTACT
720 777-5401
ellen.elias@childrenscolorado.org

Principal Investigator

Ellen R Elias, MD
PRINCIPAL_INVESTIGATOR
University of Colorado, Denver

Study Locations (Sites)

Children's Hospital Colorado
Aurora, Colorado, 80045
United States

Collaborators and Investigators

Sponsor: University of Colorado, Denver

  • Ellen R Elias, MD, PRINCIPAL_INVESTIGATOR, University of Colorado, Denver

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2008-12
Study Completion Date2025-12

Study Record Updates

Study Start Date2008-12
Study Completion Date2025-12

Terms related to this study

Keywords Provided by Researchers

  • Antioxidant treatment
  • Oxysterols
  • Cholesterol deficiency
  • Accumulation of 7-dehydrocholesterol
  • electroretinogram (ERG)
  • Auditory Brainstem Response (ABR)

Additional Relevant MeSH Terms

  • Smith-Lemli-Opitz Syndrome
  • Cone-Rod Dystrophy
  • Hearing Loss