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RECRUITINGPhase 2INTERVENTIONAL

Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

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.

Who May Be Eligible (Plain English)

Who May Qualify: - 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 Who Should NOT Join This Trial: - absence of detectable 7-dehydrocholesterol/8-dehydrocholesterol - allergy to Antioxidant medication Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
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

Treatments Being Tested

DRUG

Antioxidants

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.

DRUG

Cholesterol

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)

Children's Hospital Colorado
Aurora, Colorado, United States