Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
Smith-Lemli-Opitz Syndrome, Cone-Rod Dystrophy, Hearing Loss
About this trial
This is an interventional treatment trial for Smith-Lemli-Opitz Syndrome focused on measuring Antioxidant treatment, Oxysterols, Cholesterol deficiency, Accumulation of 7-dehydrocholesterol, electroretinogram (ERG), Auditory Brainstem Response (ABR)
Eligibility 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
Sites / Locations
- Children's Hospital ColoradoRecruiting
Arms of the Study
Arm 1
Arm 2
Arm 3
Experimental
Experimental
Experimental
antioxidant effects on retinal function
antioxidant effects on hearing
Antioxidant effect on Oxysterols
Patients with SLOS will be treated with both cholesterol supplementation and antioxidants. Retinal function will be followed by serial electroretinogram (ERG) testing and pigmentary retinopathy will be followed by Serial Ophthalmologic exams under anesthesia
Patients with SLOS will be treated with cholesterol and antioxidant medication and their hearing will be followed by serial brainstem audiometry (ABR)
Patients with SLOS will be treated with antioxidants and cholesterol. Blood oxysterol levels will be measured. Future focus will be on being able to use oxysterol levels to regulate antioxidant doses, and to determine which particular antioxidants might have the most benefit in lowering oxysterols