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

Who is this study for? Patients with Smith-Lemli-Opitz Syndrome, Cone-Rod Dystrophy, Hearing Loss
What treatments are being studied? Antioxidants+Cholesterol
Status: Recruiting
Location: See location...
Intervention Type: Drug
Study Type: Interventional
Study Phase: Phase 2
SUMMARY

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.

Eligibility
Participation Requirements
Sex: All
Maximum Age: 65
Healthy Volunteers: f
View:

• Clinical diagnosis of Smith-Lemli-Opitz Syndrome

• Elevated levels of 7-dehydrocholesterol and 8-dehydrocholesterol

• Must be able to travel to Children's Hospital Colorado annually

• Must have insurance coverage for ERG/ABR studies

Locations
United States
Colorado
Children's Hospital Colorado
RECRUITING
Aurora
Contact Information
Primary
Ellen R Elias, MD
ellen.elias@childrenscolorado.org
720 777-5401
Time Frame
Start Date: 2008-12
Estimated Completion Date: 2025-12
Participants
Target number of participants: 100
Treatments
Experimental: antioxidant effects on retinal function
Patients with SLOS will be treated with both cholesterol supplementation and antioxidants. Retinal function will be followed by serial electroretinogram (ERG) testing and pigmentary retinopathy will be followed by Serial Ophthalmologic exams under anesthesia
Experimental: antioxidant effects on hearing
Patients with SLOS will be treated with cholesterol and antioxidant medication and their hearing will be followed by serial brainstem audiometry (ABR)
Experimental: Antioxidant effect on Oxysterols
Patients with SLOS will be treated with antioxidants and cholesterol. Blood oxysterol levels will be measured. Future focus will be on being able to use oxysterol levels to regulate antioxidant doses, and to determine which particular antioxidants might have the most benefit in lowering oxysterols
Authors
Chun-hui Tsai, Rebecca S Braverman
Sponsors
Leads: University of Colorado, Denver

This content was sourced from clinicaltrials.gov