Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
Status:
Recruiting
Trial end date:
2025-12-01
Target enrollment:
Participant gender:
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.