Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
University of Colorado, Denver
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.
Description
Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive disorder caused by a metabolic error in the final step of cholesterol biosynthesis, leading to cholesterol deficiency and accumulation of the cholesterol precursor, 7-dehydrocholesterol.Patients with SLOS display complex medical problems including growth failure, intellectual disability, behavioral disorders, progressive retinal dystrophy, hearing loss and photosensitivity. Dr Elias was one of the original geneticists who discovered the cause of this disorder in 1994, and ever since has been treating SLOS patients with cholesterol sup…
Eligibility
- Age range
- Up to 65 years
- Sex
- All
- Healthy volunteers
- No
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
Interventions
- DrugAntioxidants
Patients will be prescribed the drug DEKAS plus at a dose based on age and weight. The effects of the treatment will be monitored by serial ERG, ABR, oxysterol levels and clinical findings. Blood levels of 25-Oh vitamin D will be monitored to prevent toxicity.
- DrugCholesterol
Patients with SLOS typically have cholesterol deficiency. They will be treated with cholesterol supplementation to keep cholesterol levels \> 100 mg/dl if possible
Location
- Children's Hospital ColoradoAurora, Colorado