Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
University of Colorado, Denver
100 participants
Dec 1, 2008
INTERVENTIONAL
Conditions
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.
Eligibility
Inclusion Criteria4
- 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 Criteria2
- absence of detectable 7-dehydrocholesterol/8-dehydrocholesterol
- allergy to Antioxidant medication
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Interventions
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.
Patients with SLOS typically have cholesterol deficiency. They will be treated with cholesterol supplementation to keep cholesterol levels \> 100 mg/dl if possible
Locations(1)
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NCT01773278