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

• Status: Recruiting
• Trial end date: 2025-12-01
• Target enrollment: 0
• Participant gender: All

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 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.

• Phase: Phase 2
• Accepts Healthy Volunteers?: No

Details

• Lead Sponsor: University of Colorado, Denver
• Treatments: Antioxidants

Criteria

Inclusion Criteria:

• 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

Exclusion Criteria:

• absence of detectable 7-dehydrocholesterol/8-dehydrocholesterol

• allergy to Antioxidant medication