drugset / Trial / NCT01773278
Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
Non-randomizedSingle-groupOpen-labelTreatment
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.
Timeline
- Start
- 2008-12
- Primary completion
- 2025-12
- Completion
- 2025-12
Drugs
| Evaluation | Drug | Modality | Dose | Route |
|---|---|---|---|---|
| Subject | Cholesterol | Small molecule | — | — |
| Subject | DEKAS plus | Other / unclassified | — | — |