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

Trial Information
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

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 an annual basis, the patients undergo a series of tests under anesthesia, including electroretinogram (ERG), brainstem audiometry (ABR), and ophthalmologic exam under anesthesia to follow pigmentary retinopathy.

Am I eligible for this trial?
Participation Requirements
Maximum Age:
Healthy Volunteers:

• 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

Where is this trial taking place?
United States
Children's Hospital Colorado
Who do I contact about this trial?
Ellen R Elias, MD
720 777-5401
When is this trial taking place?
Start Date: December 2008
Estimated Completion Date: December 2025
How many participants will be in this trial?
Target number of participants: 100
What treatment is being studied in this trial?
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
Who are the authors of this trial?

This content was sourced from